DAC

Wellcome Trust Sanger Institute

Dac ID Contact Person Email Access Information
EGAC00001000205 Data Sharing datasharing [at] sanger [dot] ac [dot] uk No additional information is available

DAC description

Wellcome Trust Sanger Institute

This DAC controls 492 datasets:

Dataset ID Description Technology Samples
EGAD00001000227 EGAD00001000227_UK10K_NEURO_ABERDEEN_REL_2012_07_05 Illumina HiSeq 2000; 347
EGAD00001000315 UK10K_NEURO_ABERDEEN REL-2012-11-27 Illumina HiSeq 2000; 313
EGAD00000000024 WTCCC2 project samples from National Blood Donors (NBS) Cohort 1
EGAD00000000022 WTCCC2 project samples from 1958 British Birth Cohort Illumina 1.2M 3000
EGAD00001000319 UK10K_NEURO_GURLING REL-2012-11-27 Illumina HiSeq 2000; 48
EGAD00001000237 EGAD00001000237_UK10K_NEURO_GURLING_REL_2012_07_05 Illumina HiSeq 2000; 43
EGAD00000000004 WTCCC1 project Coronary Artery Disease (CAD) samples Affymetrix 500K 1998
EGAD00000000009 WTCCC1 project Type 2 Diabetes (T2D) samples Affymetrix 500K 1999
EGAD00000000005 WTCCC1 project Inflammatory Bowel Disease (IBD) samples Affymetrix 500K 2005
EGAD00000000007 WTCCC1 project Rheumatooid arthritis (RA) samples Affymetrix 500K 1999
EGAD00000000001 WTCCC1 project samples from 1958 British Birth Cohort Affymetrix 500K 1504
EGAD00000000006 WTCCC1 project Hypertension (HT) samples Affymetrix 500K 2001
EGAD00000000003 WTCCC1 project Bipolar Disorder (BD) samples Affymetrix 500K 1998
EGAD00000000008 WTCCC1 project Type 1 Diabetes (T1D) samples Affymetrix 500K 2000
EGAD00000000002 WTCCC1 project samples from UK National Blood Service Affymetrix 500K 1500
EGAD00001000336 UK10K_OBESITY_SCOOP REL-2012-11-27 Illumina HiSeq 2000; 784
EGAD00001000241 EGAD00001000241_UK10K_OBESITY_SCOOP_REL_2012_07_05 Illumina HiSeq 2000; 674
EGAD00001000151 UK10K OBESITY REL-2011-07-14 Illumina HiSeq 2000; 88
EGAD00001000193 UK10K_OBESITY_SCOOP REL-2012-02-22 Illumina HiSeq 2000; 573
EGAD00010000230 WTCCC2 samples from Hypertension Cohort - Illuminus 2943
EGAD00010000234 WTCCC2 samples from 1958 British Birth Cohort Illumina HumanExome-12v1_A-GenCall, zCall 12241
EGAD00010000236 WTCCC2 samples from Coronary Artery Disease Cohort - Illuminus, GenoSNP 3125
EGAD00010000232 WTCCC2 samples from Type 2 Diabetes Cohort - Illuminus 2975
EGAD00000000016 WTCCC project Tuberculosis (TB) samples Affymetrix 500K 1498
EGAD00000000015 WTCCC project African control samples Affymetrix 500K 1496
EGAD00001000184 UK10K_NEURO_FSZ_REL_2012_01_13 Illumina HiSeq 2000; 120
EGAD00001000240 UK10K_NEURO_FSZ_REL_2012_07_05 Illumina HiSeq 2000; 120
EGAD00000000011 WTCCC1 project Autoimmune Thyroid Disease (ATD) samples Illumina 15K 900
EGAD00000000014 WTCCC1 project samples from 1958 British Birth Cohort Illumina 15K 1504
EGAD00001000380 Illumina paired-end sequencing of whole- exome pulldown DNA from Severe Insulin Resistant patients. Illumina Genome Analyzer II;, Illumina HiSeq 2000; 64
EGAD00001000024 Whole Exome Sequencing for Characterization of Disease Causing Mutations in two Pakistani Families Suffering from Autosomal Recessive Ocular Disorders. Illumina Genome Analyzer II 4
EGAD00000000120 WTCCC2 project Multiple Sclerosis (MS) samples Human670-QuadCustom v1 11375
EGAD00000000023 WTCCC2 project samples from National Blood Donors (NBS) Cohort 1
EGAD00000000021 WTCCC2 project samples from 1958 British Birth Cohort Affymetrix 6.0 3000
EGAD00010000264 WTCCC2 project samples from Ischaemic Stroke Cohort Illumina_670k - Illuminus 4205
EGAD00001000235 EGAD00001000235_UK10K_NEURO_IOP_COLLIER_REL_2012_07_05 Illumina HiSeq 2000; 170
EGAD00001000321 UK10K_NEURO_IOP_COLLIER REL-2012-11-27 Illumina HiSeq 2000; 158
EGAD00001000295 UK10K_RARE_HYPERCHOL REL-2012-11-27 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 120
EGAD00001000186 UK10K_RARE_HYPERCHOL REL-2012-02-22 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 71
EGAD00001000167 UK10K_RARE_HYPERCHOL REL-2012-01-13 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 48
EGAD00001000207 UK10K_RARE_HYPERCHOL REL-2012-07-05 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 88
EGAD00000000025 WTCCC2 project Ulcerative Colitis (UC) samples Affymetrix 6.0 2869
EGAD00001002158 This is an in vitro genome-wide CRISPR/cas9 screen in human glioblastoma stem cells, screening for genes essential for survival of these cells. These cells express cas9 and have been transfected with a guide RNA library causing gene knockouts. We will analyse the sequencing data for depletion of guide RNAs. This dataset contains all the data available for this study on 2016-06-02. Illumina HiSeq 2000; 6
EGAD00001000345 Exome sequencing of 12 DNA samples obtained from patients with structural brain malformations. Illumina HiSeq 2000; 9
EGAD00001000310 UK10K_NEURO_ASD_BIONED REL-2012-11-27 Illumina HiSeq 2000; 76
EGAD00001000228 EGAD00001000228_UK10K_NEURO_ASD_BIONED_REL_2012_07_05 Illumina HiSeq 2000; 59
EGAD00001000053 Exome sequencing in patients with Calcific Aortic Valve Stenosis Illumina HiSeq 2000 20
EGAD00001000178 UK10K_RARE_CHD REL-2012-01-13 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 46
EGAD00001000294 UK10K_RARE_CHD REL-2012-11-27 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 124
EGAD00001000210 UK10K_RARE_CHD REL-2012-07-05 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 124
EGAD00001000192 UK10K_RARE_CHD REL-2012-02-22 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 46
EGAD00001000256 UK10K_NEURO_UKSCZ REL-2012-07-05 Illumina HiSeq 2000; 595
EGAD00001000335 UK10K_NEURO_UKSCZ REL-2012-11-27 Illumina HiSeq 2000; 527
EGAD00001000182 UK10K_NEURO_UKSCZ REL-2012-01-13 Illumina HiSeq 2000; 95
EGAD00001000317 UK10K_NEURO_EDINBURGH REL-2012-11-27 Illumina HiSeq 2000; 214
EGAD00001000233 EGAD00001000233_UK10K_NEURO_EDINBURGH_REL_2012_07_05 Illumina HiSeq 2000; 219
EGAD00001000348 Exome sequencing of Bilateral Anophthalmia cases- Pilot Study Illumina Genome Analyzer II; 16
EGAD00001000342 This project aims to find causal variants in 50 patients diagnosed with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD), of presumed recessive inheritance performing whole exome sequencing to ~50x mean depth. This is a collaboration with Prof A. Jackson, MRC Human Genetics Unit, Edinburgh Illumina Genome Analyzer II;, Illumina HiSeq 2000; 66
EGAD00001000383 In collaboration with Dr Robert Semple we have identified a family harbouring an autosomal dominant variant, which leads to severe insulin resistance (SIR), short stature and facial dysmorphism. This family is unique within the SIR cohort in having normal lipid profiles, preserved adiponectin and normal INSR expression and phosphorylation. DNA is available for 7 affected and 7 unaffected family members across 3 generations. All 14 samples have been genotyped using microsatellites and the Affymetrix 6.0 SNP chip. Linkage analysis identified an 18.8Mb haplotype on chromosome 19 as a possible location of the causative variant. However, Exome sequencing of 3 affected and 1 unaffected family members has not identified the causative variant suggesting the possibility of an intronic or intergenic variant in this region or elsewhere in the genome. We propose to conduct whole genome sequencing of 5 members of the pedigree at a depth of 20X. The chosen samples are two sets of parents plus one member of an unaffected branch of the pedigree who shares the risk haplotype on chromosome 19. Sequencing of the two sets of parents will be used along with the genome-wide SNP data to impute 4 affected children giving an effect sample size of 6 affected individuals. Illumina HiSeq 2000; 7
EGAD00001000347 These samples include exome sequences of family members with dyslipidemias from Finnish origin. Illumina HiSeq 2000; 95
EGAD00010000150 WTCCC2 project samples from Ankylosing spondylitis Cohort Illumina_670k - Illuminus 2005
EGAD00010000250 NBS control samples Illumina ImmunoBeadChip - Illuminus, GenoSNP 3030
EGAD00010000246 Coeliac disease cases and control samples. (1958BC samples excluded) Illumina ImmunoBeadChip - Illuminus, GenoSNP 10758
EGAD00010000248 1958BC control samples Illumina ImmunoBeadChip - Illuminus, GenoSNP 6812
EGAD00000000030 T1DGC project 1958 British Birth Cohort samples Illumina HumanHap 550 2604
EGAD00000000010 WTCCC1 project Ankylosing Spondylitis (AS) samples Illumina 15K 957
EGAD00001000307 UK10K_RARE_COLOBOMA REL-2012-11-27 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 117
EGAD00001000206 UK10K_RARE_COLOBOMA REL-2012-07-05 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 123
EGAD00001000179 UK10K_RARE_COLOBOMA REL-2012-01-13 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 75
EGAD00001000185 UK10K_RARE_COLOBOMA REL-2012-02-22 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 98
EGAD00001000054 Mutational Screening of Human Acute Myleloid Leukaemia Samples Illumina HiSeq 2000 10
EGAD00001000183 UK10K_NEURO_FSZNK REL-2012-01-13 Illumina HiSeq 2000; 273
EGAD00001000234 EGAD00001000234_UK10K_NEURO_FSZNK_REL_2012_07_05 Illumina HiSeq 2000; 281
EGAD00001000332 UK10K_NEURO_FSZNK REL-2012-11-27 Illumina HiSeq 2000; 258
EGAD00000000012 WTCCC1 project Multiple Sclerosis (MS) samples Illumina 15K 975
EGAD00001000382 Whole Exome Sequencing of Permanent Neonatal Diabetes Patients Illumina HiSeq 2000; 25
EGAD00001000232 EGAD00001000232_UK10K_NEURO_ASD_TAMPERE_REL_2012_07_05 Illumina HiSeq 2000; 54
EGAD00001000314 UK10K_NEURO_ASD_TAMPERE REL-2012-11-27 Illumina HiSeq 2000; 48
EGAD00001000343 This project aims to identify highly penetrant coding variants increasing the risk of Congenital Heart Disease (CHD) performing whole exome sequencing on DNA samples from 23 affected individuals, selected from 10 families with presumed Autosomal Recessive Inheritance. This is a collaboration with Prof. Eamonn Maher and Dr. Chirag Patel from the Department of Medical and Molecular Genetics, University of Birmingham plans to sequence 23 indexed Agilent whole exome pulldown libraries on 75Bp PE HiSeq (Illumina) Illumina HiSeq 2000; 24
EGAD00010000262 WTCCC2 project Schizophrenia (SP) samples Affyemtrix 6.0 - CHIAMO 3019
EGAD00001000152 UK10K_RARE_THYROID REL-2012-01-13 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 27
EGAD00001000208 UK10K_RARE_THYROID REL-2012-07-05 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 65
EGAD00001000187 UK10K_RARE_THYROID REL-2012-02-22 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 65
EGAD00001000329 UK10K_RARE_THYROID REL-2012-11-27 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 113
EGAD00001000381 Illumina paired-end sequencing of whole- exome pulldown DNA from Severe Insulin Resistant patients. Illumina HiSeq 2000; 3
EGAD00001000297 UK10K_RARE_FIND REL-2012-11-27 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 124
EGAD00001000171 UK10K_RARE_FIND REL-2012-01-13 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 44
EGAD00001000209 UK10K_RARE_FIND REL-2012-07-05 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 121
EGAD00001000190 UK10K_RARE_FIND REL-2012-02-22 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 90
EGAD00001000021 Paroxysmal neurological disorders Illumina HiSeq 2000, Illumina Genome Analyzer II, Illumina HiSeq 2000; 97
EGAD00001000108 Paroxysmal neurological disorders Illumina HiSeq 2000, Illumina Genome Analyzer II, Illumina HiSeq 2000; 327
EGAD00000000013 WTCCC1 project Breast cancer (BC) samples Illumina 15K 1004
EGAD00001000052 UK10K_NEURO_MUIR REL-2011-01-28 Illumina Genome Analyzer II; 104
EGAD00001000322 UK10K_NEURO_MUIR REL-2012-11-27 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 166
EGAD00001000170 UK10K_NEURO_MUIR REL-2012-01-13 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 167
EGAD00001000236 EGAD00001000236_UK10K_NEURO_MUIR_REL_2012_07_05 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 167
EGAD00001000229 EGAD00001000229_UK10K_NEURO_ASD_FI_REL_2012_07_05 Illumina HiSeq 2000; 85
EGAD00001000173 UK10K_NEURO_ASD_FI REL-2012-01-13 Illumina HiSeq 2000; 85
EGAD00001000311 UK10K_NEURO_ASD_FI REL-2012-11-27 Illumina HiSeq 2000; 84
EGAD00001000231 EGAD00001000231_UK10K_NEURO_ASD_SKUSE_REL_2012_07_05 Illumina HiSeq 2000; 320
EGAD00001000313 UK10K_NEURO_ASD_SKUSE REL-2012-11-27 Illumina HiSeq 2000; 305
EGAD00001000298 UK10K_RARE_NEUROMUSCULAR REL-2012-11-27 Illumina HiSeq 2000; 130
EGAD00001000180 UK10K_RARE_NEUROMUSCULAR REL-2012-01-13 Illumina HiSeq 2000; 47
EGAD00001000189 UK10K_RARE_NEUROMUSCULAR REL-2012-02-22 Illumina HiSeq 2000; 86
EGAD00001000219 UK10K_RARE_NEUROMUSCULAR REL-2012-07-05 Illumina HiSeq 2000; 117
EGAD00001000363 Common variable immunodeficiency (CVID) is the most common form of primary immunodeficiency with an estimated incidence of 1:10,000. It has been apparent for many years that CVID has a genetic component, occurs frequently in families and can have both a recessive or dominant mode of inheritance. In recent years, 4 genes underlying CVID have been identified; however, mutations within in them are estimated to account for no more than 10% of all cases of CVID. We have identified a multi-generational family with autosomal dominant CVID. Genome-wide linkage analysis has mapped the locus underlying CVID in this family to an approximately 9.2 Mb interval on chromosome 3q27.3-q29, between the markers D3S3570 and D3S1265. This locus is distinct from any of the previously mapped susceptibility loci suggesting a novel genetic variant is responsible for disease in this family. The aim of this study is to use exome sequencing of affected (n = 4) and unaffected (n = 4) individuals, in tandem with the available genetic mapping data, to identify the causal variant underlying CVID in this family. Illumina HiSeq 2000; 8
EGAD00001000320 UK10K_NEURO_IMGSAC REL-2012-11-27 Illumina HiSeq 2000; 111
EGAD00001000239 EGAD00001000239_UK10K_NEURO_IMGSAC_REL_2012_07_05 Illumina HiSeq 2000; 114
EGAD00001000340 The objective of this study is to resequence of targeted intervals containing autosomal recessive variants causing neurological disorders in consanguineous pedigrees. Using homozygosity mapping, three intervals of very different sizes have previously been unambiguously mapped for three different neurological diseases: 2.4Mb, 8Mb and 14.3Mb in size, for Microlissencephaly, Severe Mental Retardation and Complicated hereditary spastic paraplegia respectively. This study is a pilot to assess how well custom targeted resequencing performs across a broad size range of intervals. The study design is to use a different custom capture probe set for each interval, pulldown from a single patient from each family, and sequence 1 lane using Illumina paired-reads for each sample. Candidate variants will be followed up in the families themselves, and in patients with similar phenotypes from outbred populations Illumina Genome Analyzer II; 3
EGAD00001000105 MuTHER adipose tissue small RNA expression Illumina Genome Analyzer II 130
EGAD00001000019 Lethal malformation syndrome Illumina Genome Analyzer II 6
EGAD00001000346 Exome sequencing of patients and their families with diverse rare neurological disorders. Some families have prior linkage data identifying a specific chromosomal interval or interest, other families do not have linkage data available. Many of these families come from special populations whose demography or preference for consanguineous marriages make them particularly tractable for genetic studies. Illumina HiSeq 2000; 30
EGAD00000000031 HLA genotyping of 1958 British Birth Cohort samples unknown 1
EGAD00001000344 Exome sequencing of 30 parent-offspring trios to >50X mean depth, where the offspring has sporadic TOF, to identify potential causal de novo mutations. We will use the exome plus design for pulldown that incorporates ~6.8Mb of additional regulatory sequences in addition to the ~50Mb GENCODE exome. Illumina HiSeq 2000; 90
EGAD00000000057 WTCCC project samples from the Parkinson's disase cohort Illumina 610K Quad 1705
EGAD00001000341 This pilot study aims to generate pilot data to inform future study designs in consanguineous families or inbred populations by resequencing the exome of six individuals from five families with neurodevelopmental diseases. For all of these families a single mapping interval containing the causal variant has previously been identified. Illumina HiSeq 2000; 6
EGAD00001000299 Whole exome sequencing of samples selected from the Finrisk sample collection. The samples sequenced in this study have all been collected in Kuusamo, Finland. Illumina HiSeq 2000; 24
EGAD00001000194 UK10K_COHORT_TWINS REL-2011-12-01 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 1713
EGAD00001000188 UK10K_RARE_SIR REL-2012-02-22 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 63
EGAD00001000334 UK10K_RARE_SIR REL-2012-11-27 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 111
EGAD00001000218 UK10K_RARE_SIR REL-2012-07-05 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 81
EGAD00001000153 UK10K_RARE_SIR REL-2012-01-13 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 38
EGAD00001000191 UK10K_RARE_CILIOPATHIES REL-2012-02-22 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 128
EGAD00001000296 UK10K_RARE_CILIOPATHIES REL-2012-11-27 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 108
EGAD00001000168 UK10K_RARE_CILIOPATHIES REL-2012-01-13 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 50
EGAD00001000217 UK10K_RARE_CILIOPATHIES REL-2012-07-05 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 150
EGAD00001000242 EGAD00001000242_UK10K_NEURO_ASD_MGAS_REL_2012_07_05 Illumina HiSeq 2000; 60
EGAD00001000312 UK10K_NEURO_ASD_MGAS REL-2012-11-27 Illumina HiSeq 2000; 96
EGAD00010000124 Psoriasis cases as part of WTCCC2 phase 2 Illumina_670k - Illuminus 2622
EGAD00010000282 Pharmacogenomic response to Statins samples (Genotypes/Phenotypes) Affymetrix 6.0 - CHIAMO 4134
EGAD00000000056 WTCCC project samples from the primary biliary cirrhosis cohort Illumina 610K Quad 1705
EGAD00001000230 EGAD00001000230_UK10K_NEURO_ASD_GALLAGHER_REL_2012_07_05 Illumina HiSeq 2000; 72
EGAD00001000316 UK10K_NEURO_ASD_GALLAGHER REL-2012-11-27 Illumina HiSeq 2000; 75
EGAD00001000384 In order to progress human induced pluripotent stem cells (hiPSCs) towards the clinic, several outstanding questions must be addressed. It is possible to reprogram different somatic cell types into hiPSCs but it is unlcear whether some cell types carry through fewer mutations through reprogramming (either due to mutations present in the primary cells, or mutations accumulated during reprogramming). Through in depth analysis of hiPSCs generated from different somatic cells, it will be possible to assess the variation in genetic stability of different cell types. Illumina HiSeq 2000; 35
EGAD00001000351 This pilot study aims to generate pilot data to inform future study designs by resequencing the whole exomes of 10 unrelated individuals diagnosed with Congenital Heart Disease (CHD). Illumina Genome Analyzer II; 16
EGAD00001000309 UK10K_OBESITY_GS REL-2012-11-27 Illumina HiSeq 2000; 424
EGAD00001000300 UK10K_OBESITY_GS_REL_2012_07_05 Illumina HiSeq 2000; 430
EGAD00001000613 UK10K_NEURO_ASD_MGAS REL-2013-04-20 Illumina HiSeq 2000; 97
EGAD00001000604 In order to progress human induced pluripotent stem cells (hiPSCs) towards the clinic, several outstanding questions must be addressed. It is possible to reprogram different somatic cell types into hiPSCs and from studies in the mouse, it appears that an epigenetic memory of the starting cell type is carried over to hiPSCs. However a comprehensive comparative study of the characteristics of these hiPSCs has been missing from the literature. Importantly studies which aimed to address these aspects of hiPSCs have used cells from different patients. In order to avoid this important confounding variable and to keep the genetic background constant, tissue samples were procured from the patients and reprogrammed to iPS cells. The transcriptomes of these iPS cells will be compared. Protocol: primary cultures of cells were reprogrammed to iPS cells. RNA was extracted using a standard column extraction kit. Illumina HiSeq 2000; 47
EGAD00001000251 De novo mutations in schizophrenia Illumina HiSeq 2000; 611
EGAD00001000417 UK10K_RARE_HYPERCHOL REL-2013-04-20 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 125
EGAD00001000413 UK10K_RARE_CHD REL-2013-04-20 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 125
EGAD00001000415 UK10K_RARE_COLOBOMA REL-2013-04-20 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 123
EGAD00001000416 UK10K_RARE_FIND REL-2013-04-20 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 124
EGAD00001000420 UK10K_RARE_THYROID REL-2013-04-20 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 124
EGAD00001000434 UK10K_NEURO_ASD_BIONED REL-2013-04-20 Illumina HiSeq 2000; 77
EGAD00001000418 UK10K_RARE_NEUROMUSCULAR REL-2013-04-20 Illumina HiSeq 2000; 140
EGAD00001000419 UK10K_RARE_SIR REL-2013-04-20 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 121
EGAD00001000414 UK10K_RARE_CILIOPATHIES REL-2013-04-20 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 122
EGAD00001000433 UK10K_NEURO_ABERDEEN REL-2013-04-20 Illumina HiSeq 2000; 392
EGAD00001000432 UK10K_OBESITY_SCOOP REL-2013-04-20 Illumina HiSeq 2000; 985
EGAD00001000442 UK10K_NEURO_IOP_COLLIER REL-2013-04-20 Illumina HiSeq 2000; 172
EGAD00001000430 UK10K_NEURO_UKSCZ REL-2013-04-20 Illumina HiSeq 2000; 554
EGAD00001000438 UK10K_NEURO_EDINBURGH REL-2013-04-20 Illumina HiSeq 2000; 234
EGAD00001000439 UK10K_NEURO_FSZNK REL-2013-04-20 Illumina HiSeq 2000; 285
EGAD00001000437 UK10K_NEURO_ASD_TAMPERE REL-2013-04-20 Illumina HiSeq 2000; 55
EGAD00001000443 UK10K_NEURO_MUIR REL-2013-04-20 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 175
EGAD00001000435 UK10K_NEURO_ASD_FI REL-2013-04-20 Illumina HiSeq 2000; 84
EGAD00001000431 UK10K_OBESITY_GS REL-2013-04-20 Illumina HiSeq 2000; 428
EGAD00001000441 UK10K_NEURO_IMGSAC REL-2013-04-20 Illumina HiSeq 2000; 113
EGAD00001000436 UK10K_NEURO_ASD_GALLAGHER REL-2013-04-20 Illumina HiSeq 2000; 77
EGAD00001000605 CR products were obtained from each target loci using genomic DNA from human iPS cells. Subsequently, PCR products are pooled and subjected to Illumina library preparation. The library will be sequenced either by HiSeq or MiSeq. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina MiSeq;, Illumina HiSeq 2000; 10
EGAD00001000603 We recently used the Agilent SureSelect platform to re-sequence a set of genes known to be mutated in human AML. The results from 10 AML DNA samples were very satisfactory, but the effort required was significant. Thus, we decided to re-sequence the same genes using the Haloplax system for target enrichment in 48 AML samples. We planned to do this using MiSeq and have data from a pilot of 3 samples. The data is promising but coverage appears pathcy so far. However, in order to get a better understanding of the data we will need deeper sequencing. We will need two lanes of HiSeq to get the same degree coverage as Sureselect. his data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2000; 54
EGAD00001000607 PCR products were obtained from each target loci using genomic DNA from human iPS cells. Subsequently, PCR products are pooled and subjected to Illumina library preparation. The library will be sequenced either by HiSeq or MiSeq. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina MiSeq; 2
EGAD00001000608 PCR products were obtained from each target loci using genomic DNA from human iPS cells. Subsequently, PCR products are pooled and subjected to Illumina library preparation. The library will be sequenced either by HiSeq or MiSeq. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina MiSeq; 60
EGAD00001000614 UK10K_NEURO_ASD_SKUSE REL-2013-04-20 Illumina HiSeq 2000; 341
EGAD00001000615 UK10K_NEURO_FSZ REL-2013-04-20 Illumina HiSeq 2000; 128
EGAD00001000598 The Ethiopian area stands among the most ancient ones ever occupied by human populations and their ancestors. Particularly, according to archaeological evidences, it is possible to trace back the presence of Hominids up to at least 3 million years ago. Furthermore, the present day human populations show a great cultural, linguistic and historic diversity which makes them essential candidate to investigate a considerable part of the African variability. Following the typing of 300 Ethiopian samples on Illumina Omni 1M (see Human Variability in Ethiopia project, previously approved by the Genotyping committee) we now have a clearer idea on which populations living in the area include the most of the diversity. This project therefore aims to sequence the whole genome of 300 individuals at low (4-8x) depth belonging to the six most representative populations of the Ethiopian area to produce a unique catalogue of variants peculiar of the North East Africa. Furthermore 6 samples (one from each population) will also be sequenced at high (30x) depth to ensure full coverage of the diversity spectrum. The retrieved variants will be of great help in evaluating the demographic dynamics of those populations as well as shedding light on the migrations out of Africa. Illumina HiSeq 2000; 120
EGAD00001000596 This project is to develop and validate a method to detect de novo mutations in a foetal genome through deep sequencing of cell-free DNA from the plasma of pregnant women. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2000; 5
EGAD00001000423 The aim is to find rare variants of intermediate penetrance in those at risk of Crohn's disease Illumina Genome Analyzer II; 10
EGAD00001000429 UK10K_OBESITY_TWINSUK REL-2013-04-20 Illumina HiSeq 2000; 68
EGAD00001000640 Transcriptome studies in patients with rare genetic diseases can potentially aid in the interpretation of likely causal genetic variation through identification of altered transcript abundance and/or structure. RNA-Seq is the most sensitive assay for both investigating transcript structure and abundance The primary aim of this pilot project is to investigate to what degree integrating exome-Seq and RNA-Seq data on the same individual can accelerate the identification of causal alleles for rare genetic diseases. There are two main strands to this: (i) identifying which variants discovered in exome-seq appear to be having a functional impact on transcripts, and (ii) identifying transcript outliers, especially among known causal genes, that may not necessarily have a causal variant identified from exome sequencing. The latter may identify the presence of causal variants that lie far from coding regions (e.g. the formation of cryptic splice sites deep within introns, or loss of long range regulatory elements), which can be confirmed with further targeted genetic assays. Just over 50% of all disease-causing variants recorded in the Human Gene Mutation Database (HGMD) affect transcript structure and abundance (e.g. nonsense SNVs, essential splice site SNVs, frameshifting indels, CNVs). This pilot project will study RNA from lymphoblastoid cell-lines from 12 patients with primordial dwarfism syndromes, for 10 of these samples we have previously generate exome data as part of our collaboration with the group of Prof Andrew Jackson. The two remaining samples are positive controls where the causal mutation is known, and is known to affect transcript structure and/or abundance. Primordial dwarfism is a prime candidate for these RNA-seq studies because all known causal mutations to date have key roles in DNA replication and thus, unsurprisingly, the products of the causal genes are typically ubiquitously expressed. Each RNA will be sequenced, with two technical replicates (independent RT-PCR and libraries) per sample, and each replicate run in 1/2 of a HiSeq lane using 100bp paired reads. Samples preparation was as follows :The cells were grown to confluency, then pellets frozen at -80. RNA samples were prepared using the Qiagen RNeasy kit, then nanodropped and analyzed using the bioanalyzer to determine concentration and purity. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2000; 24
EGAD00001000694 This is an ongoing project and continuation to all the sequencing we have been doing over the last few years. We have some additional families and probands with syndromes of insulin resistance not previously sequenced within uk10k or other core funded projects. We would like to complete the sequencing in all of the good quality families and probands we have, this would require another ~50 samples to be WES sequenced. This cohort has already proven to be a rich source of interesting findings with papers in Science and Nature genetics. Illumina HiSeq 2000; 68
EGAD00001000696 The Ethiopian area stands among the most ancient ones ever occupied by human populations and their ancestors. Particularly, according to archaeological evidences, it is possible to trace back the presence of Hominids up to at least 3 million years ago. Furthermore, the present day human populations show a great cultural, linguistic and historic diversity which makes them essential candidate to investigate a considerable part of the African variability. Following the typing of 300 Ethiopian samples on Illumina Omni 1M (see Human Variability in Ethiopia project, previously approved by the Genotyping committee) we now have a clearer idea on which populations living in the area include the most of the diversity. This project therefore aims to sequence the whole genome of 300 individuals at low (4-8x) depth belonging to the six most representative populations of the Ethiopian area to produce a unique catalogue of variants peculiar of the North East Africa. Furthermore 6 samples (one from each population) will also be sequenced at high (30x) depth to ensure full coverage of the diversity spectrum. The retrieved variants will be of great help in evaluating the demographic dynamics of those populations as well as shedding light on the migrations out of Africa. Illumina HiSeq 2000; 5
EGAD00001000828 Fibroblasts have been shown to re-program into induced pluripotent stem (hiPS) cells, through over-expression of pluripotency genes. These hiPS cells show similar characteristics to embryonic stem cells including cell surface markers, epigenetic changes and ability to differentiate into the three germ layers. However it is unclear as to the extent of changes in gene expression through the re-programming process.. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2000; 6
EGAD00010000506 WTCCC2 BO (Barretts oesophagus) samples Illumina_670k-Illuminus 1991
EGAD00010000516 Samples from the Pomak Villages in Greece, Pomak isolate HumanExome_12v1.1_A -GenCall, zCall 1046
EGAD00001000730 The VBSEQ project aims to combine available extensive genetic and phenotypic data to the latest high-throughput genome sequencing technology and ad hoc statistical analysis to identify new rare genetic variants underlying complex traits. Up to 100 Val Borbera samples will be sequenced to a 6x depth. Illumina HiSeq 2000; 110
EGAD00001000729 The Val Borbera is a region characterized by low iodine and high prevalence of thyroid disorders, the commonest endocrine disorders in the general population. About 30% of the participants of the Val Borbera Project were affected by such disorders and were characterized by several parameters, TSH level, anti TPO antibodies, echography, family origin. Individuals with extreme phenotypes were identified and could be clustered based on family origin and genotype. We propose to exome sequence 6 of them, affected with true goiter, at high dept (40-60x) to obtain information on exonic rare variants. Due to the family structure and to the availability of whole genome sequence information on 110 individuals from the isolated population we expect to be able to identify putative causative variants for thyroid disorders that may be studied in the remaining affected individuals. Illumina HiSeq 2000; 8
EGAD00001000728 Low coverage whole genome sequencing of samples from individuals from Friuli Venezia Giulia, an Italian genetic isolate population. Illumina HiSeq 2000; 199
EGAD00001000731 This study includes Phase 2 whole-genome sequencing data (at 4x depth)of 100 individuals from an Italian genetic isolate population (Val Borbera, abbreviated VBI) of the Italian Network of Genetic Isolates (INGI). The INGI-VBI_SEQ2 project aims to combine available extensive genetic and phenotypic data to the latest high-throughput genome sequencing technology and ad hoc statistical analysis to identify new rare genetic variants underlying complex traits. Illumina HiSeq 2000; 100
EGAD00001000399 In 2009 we identified a four-generation family with over 700 members and 41 affected with Crohn's disease (CD). At the time we sequenced the exome of 6 affected individuals but did not identify any coding variants which appear to explain the high prevalence of disease. Since then we have collected DNA from a large number of additional family members, genotyped linkage arrays on the entire family to refine genomic regions shared by identity by descent and genotyped affected and unaffected members at known CD risk loci identified by Genome Wide Association Studies (GWAS). These analyses have confirmed that a significant unexplained excess of disease remains after accounting for all known genetic factors, and that several regions of the genome are shared by a large fraction of affected individuals. We therefore perform whole genomes sequencing from 8 individuals which will allow us to impute the complete sequence of nearly all the members of the two largest and most severely affected branches of the family. Illumina HiSeq 2000; 8
EGAD00001000404 Acute myeloid leukaemia (AML) is an aggressive and molecularly diverse disease with a poor overall survival of 20-25%. With an annual incidence of 2.9 per 100,000, AML is currently the commonest myeloid malignancy in Europe, yet the two main therapeutic options for this disease, anthracyclines and purine analogues, have remained unchanged for over 20 years. Currently patients are stratified at diagnosis according to a series of clinicopathological parameters (e.g. age, white cell count and presence/absence of previous clonal haematological disease) and molecular markers (e.g. chromosomal translocations/deletions, aneuploidy and mutations in genes such as FLT3 and NPM1). Patients with adverse prognostic features, whose prognosis is particularly poor (e.g. <15% long-term survival) are offered treatment with allogeneic bone marrow transplantation (allo-BMT) if a sibling or unrelated donor is available. This can significantly improve survival (e.g. up to 40% long-term survival in some contexts), albeit at the expense of significant toxicity and transplant-related mortality (TRM). Allo-BMT is thought to work in part by allowing the delivery of large doses of chemotherapy followed by haemopoietic "rescue" with donor haemopoietic stem cells (haemopoietic failure would otherwise ensue). However, potentially the most potent effect of allo-BMT is the cytotoxic effect of donor lymphocytes against AML blasts, a phenomenon known as graft-vs-leukaemia (GVL) effect. Increasingly, transplants using reduced chemotherapy intensity (mini-allografts) are being used that partially circumvent the toxicity from chemotherapy and rely on GVL to effect cure. Nevertheless, AML relapse after allo-BMT still occurs at a significant rate of up to 80% depending on the type of transplant. There is accumulating evidence that genetic events in residual leukaemic cells enable them to evade immunodetection and therefore survive the GVL effect and expand to cause relapse. The most striking example of this is the loss of HLA antigens after transplants in which donor and recipient are not fully HLA-matched. In these cases, the leukaemia "deletes" the genomic region containing the disparate HLA antigen which was preferentially targeted as "foreign" by the GVL effect. However, the genetic basis of immune evasion in the majority of transplants, which are fully HLA matched, is not known. One possibility is that loss of genes coding for antigens outside the HLA locus but which are also targets of GVL may operate, alternatively genetic events that affect processes downstream of immunological cytotoxicity may be responsible. The identification of genetic events that mediate immune evasion would not only facilitate the understanding of this process but can help plan therapeutic interventions that improve the outcomes of allogeneic transplantation for AML and other disorders. We intend to study this by conducting exome sequencing on 6 cases of AMLs from patients that attend my clinic at Addenbrooke's hospital and have relapsed after allogeneic transplantation. Samples from AML diagnosis, remission/normal and AML relapse (total n=18) will be studied to identify somatic mutations in the primary AML and those acquired by the relapsed clone. The 18 samples will also be studied by array CGH to detect regions of genomic amplification or deletion. Illumina HiSeq 2000; 25
EGAD00001000405 In this project we will sequence the exomes of 250 patients with Parkinson's disease Illumina HiSeq 2000; 247
EGAD00001000406 Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare and aggressive haematological malignancy derived from precursors of plasmacytoid dendritic cells. Due to the rarity of BPDCNs our knowledge of their molecular pathogenesis was until recently confined to observations describing reccurent chromosomal deletions involving chromosomes 5q, 12p, 13q, 6q, 15q and 9. A recent publication went on to delineate the common deleted regions using aCGH and demonstrated that these centred around known tumour suppressor genes including CDKN2A/B (9p21.3), RB1 (12p13.2-14.3), CDKN1B (13q11-q12) and IKZF1 (7p12.2). These mutations are found recurrently in several different cancers and in most cases are thought to be involved in tumour progression rather than initiation. However, the well-defined nature and cellular ontogeny of these neoplasms suggests strongly that they share one or a few characteristic mutations as has been demonstrated for other uncommon but well-defined neoplasms such as Hairy Cell Leukemia (BRAF) and ovarian Granulosa Cell tumours (FOXL2). Illumina HiSeq 2000; 14
EGAD00001000407 We are sequencing the exomes of patients with paroxysmal neurological disorders mainly focusing on migraine and epilepsy. Cases are collected from performance sites of members of the International Headache Genetics consortium and EuroEPINOMICS. Most cases have a strong family history. The study sample will include both cases and controls. Illumina HiSeq 2000; 327
EGAD00001000408 We aim to whole-exome sequence DNA samples from 75 individuals with severe forms of Inflammatory Bowel Disease and related autoimmune diseases to identify the rare, highly penetrant, variants that we believe underlie these phenotypes. Case samples will be obtained from both new and existing (UK IBD Genetics Consortium) collaborators to ensure only the most extreme cases are sequenced. Illumina HiSeq 2000; 4
EGAD00001000422 We perform whole exome sequencing on samples from a large IBD pedigree. The selected samples are from more distantly related family members (healthy and with IBD) and a set of matched population (Ashkenazy Jewish ancestry) samples. Illumina HiSeq 2000; 86
EGAD00001000409 2000 ulcerative colitis cases drawn from the UKIBD Genetics Consortium cohort and whole-genome sequenced at 2X depth. A case control association study using control samples whole-genome sequenced by UK10K will be undertaken to identify common, low-frequency and rare variants associated with ulcerative colitis. Data will be combined with similar data across 3000 Crohn's disease cases from the same cohort to identify inflammatory bowel disease (IBD) loci and better understand the genetic differences and similarities of the two common forms of IBD. Illumina HiSeq 2000; 1992
EGAD00001000410 We will perform exome sequencing on selected cases of splenic marginal zone lymphoma (SMZL) and diffuse large B-cell lymphoma (DLBCL) in order to characterise their genetic makeup and identify biomarkers for prognosis and prediction of treatment response. Illumina HiSeq 2000; 78
EGAD00001000411 These samples include exome sequences of family members with dyslipidemias from northern Finnish origin. Illumina HiSeq 2000; 68
EGAD00001000412 We are sequencing the exomes of patients with paroxysmal neurological disorders mainly focusing on migraine and epilepsy. Cases are collected from performance sites of members of the International Headache Genetics consortium and EuroEPINOMICS. Most cases have a strong family history. The study sample will include both cases and controls. Illumina HiSeq 2000; 477
EGAD00001000741 UK10K_COHORT_TWINSUK REL-2012-06-02: Low-coverage whole genome sequencing; variant calling, genotype calling and phasing Illumina Genome Analyzer II;, Illumina HiSeq 2000; 1854
EGAD00001000756 UK10K_OBESITY_SCOOP UK10K_EXOME_EXTRAS Illumina HiSeq 2000; 1
EGAD00001002225 This study involves targeted sequencing of samples from myeloid malignancies at different timepoints to assess clonal evolution of malignancy a. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina MiSeq; 147
EGAD00001000753 UK10K_RARE_FINDWG REL-2013-09-09 Illumina HiSeq 2000; 4
EGAD00001000750 UK10K_RARE_FIND REL-2013-10-31 variant calling Illumina HiSeq 2000; 1151
EGAD00001000755 UK10K_OBESITY_GS UK10K_EXOME_EXTRAS Illumina HiSeq 2000; 5
EGAD00001000757 UK10K_RARE_SIR UK10K_EXOME_EXTRAS Illumina HiSeq 2000; 2
EGAD00001000752 UK10K_RARE_CILWG REL-2013-09-09 Illumina HiSeq 2000; 4
EGAD00001000754 UK10K_RARE_NMWG REL-2013-09-09 Illumina HiSeq 2000; 5
EGAD00010000522 Samples from the Greek island of Crete, MANOLIS cohort HumanOmniExpress-12 v1.1 BeadChip-GenCall 1364
EGAD00001000797 This project aims to study at least 90 exomes from families with congenital heart disease. The samples have been selected at the Royal, Brompton Hospital in collaboration with Stuart Cook and Piers Daubeney. Ethic approval has been sought for in the UK and a HDMMC agreement for submitting these samples is in place at the WTSI. The phenotype we wil primarily focus our analysis is severe Left Ventricular Outflow Tract Obstructions (LVOTO) and Atrioventricular Septal Defect (AVSD). The indexed Agilent whole exome pulldown libraries will be sequenced on 75bp PE HiSeq (Illumina). Illumina HiSeq 2000; 48
EGAD00001000798 In order to progress human induced pluripotent stem cells (hiPSCs) towards the clinic, several outstanding questions must be addressed. It is possible to reprogram different somatic cell types into hiPSCs but it is unclear whether some cell types carry through fewer mutations through reprogramming (either due to mutations present in the primary cells, or mutations accumulated during reprogramming). Through in depth analysis of hiPSCs generated from different somatic cells, it will be possible to assess the variation in genetic stability of different cell types. Illumina MiSeq;, Illumina HiSeq 2000; 28
EGAD00001000796 This project aims to study at least 90 exomes from families with congenital heart disease. The samples have been selected in Leuven in collaboration with Koen Devriendt. Ethic approval has been sought for in Leuven, Belgium and a HDMMC agreement for submitting these samples is in place at the WTSI. The phenotype we wil primarily focus our analysis is severe Left Ventricular Outflow Tract Obstructions (LVOTO) and Atrioventricular Septal Defect (AVSD). The indexed Agilent whole exome pulldown libraries will be sequenced on 75bp PE HiSeq (Illumina). Illumina HiSeq 2000; 167
EGAD00001000799 Atrio-ventricular septal defects (AVSD) are a specific form of congenital heart structural defect that result from abnormal or inadequate fusion of endocardial cushions during cardiac development. This project is focused on identifying rare coding variation that substantially increases risk of AVSD, by exome sequencing of AVSD patients and some of their family members, and comparing to control datasets from other sources. The exome sequencing is performed using Agilent SureSelect 50Mb exome v3 and Hiseq 75bp paired reads with an mean sequencing coverage target of 50X. Illumina HiSeq 2000; 95
EGAD00010001332 HipSci - Bardet-Biedl Syndrome - Genotyping Array - July 2017 Illumina 1
EGAD00001000789 UK10K_COHORT_ALSPAC REL-2012-06-02: Phenotype data 1927
EGAD00001000776 UK10K_COHORT_IMPUTATION REL-2012-06-02: imputation reference panel (20140306); Merged UK10K+1000Genomes Phase 3 imputation reference panel added (20160420) Illumina HiSeq 2000; 3781
EGAD00001000790 UK10K_COHORT_TWINSUK REL-2012-06-02: Phenotype data 1854
EGAD00001000445 We recently worked-up a pulldown protocol for studying 21 genes recurrently mutated in AML (Study1770). Our manuscript is currently under revision and to address the reviewers' comments we need to validate some mutations by re-sequencing. In this add-on study we will be using PCR followed by MiSeq for this purpose. Illumina MiSeq; 9
EGAD00001000827 n order to progress human induced pluripotent stem cells (hiPSCs) towards the clinic, several outstanding questions must be addressed. It is possible to reprogram different somatic cell types into hiPSCs and from studies in the mouse, it appears that an epigenetic memory of the starting cell type is carried over to hiPSCs. However a comprehensive comparative study of the characteristics of these hiPSCs has been missing from the literature. Importantly studies which aimed to address these aspects of hiPSCs have used cells from different patients. In order to avoid this important confounding variable and to keep the genetic background constant, tissue samples were procured from the patients and reprogrammed to iPS cells. The methylation status of these iPS cells will be compared. Protocol: Primary cell cultures were generated and reprogrammed to iPS cells. DNA was extracted and immunoprecipitated using anti-methyl cytosine and anti-hydroxymethyl cytosine antibodies. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina MiSeq; 4
EGAD00001000631 PCR products were obtained from each target loci using genomic DNA from human iPS cells. Subsequently, PCR products are pooled and subjected to Illumina library preparation. The library will be sequenced either by HiSeq or MiSeq. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina MiSeq; 4
EGAD00010000298 All cases and controls (Hap300) 13761
EGAD00010000296 1958BC control samples only (Hap550) 2224
EGAD00010000294 1958BC control samples only (Hap300) 2436
EGAD00010000292 All cases and Finnish, Dutch, Italian control samples (Hap300) 10339
EGAD00010000290 NBS control samples only (Hap550) 2276
EGAD00010000284 NBS control samples only (Hap300) Illumina (Various) 2500
EGAD00010000286 All cases and controls (Hap550) Illumina (various) 11950
EGAD00010000288 All cases and Finnish, Dutch, Italian control samples (Hap550) 6313
EGAD00001000805 UK10K_RARE_THYWG REL-2013-03-06 Illumina HiSeq 2000; 2
EGAD00001000804 UK10K_RARE_NMWG REL-2013-03-06 Illumina HiSeq 2000; 1
EGAD00001000803 UK10K_RARE_FINDWG REL-2013-03-06 Illumina HiSeq 2000; 2
EGAD00001000802 UK10K_RARE_CILWG REL-2013-03-06 Illumina HiSeq 2000; 2
EGAD00010000566 HipSci - Healthy Normals - Genotyping Array - May 2014 120
EGAD00010000564 HipSci - Healthy Normals - Expression Array - May 2014 120
EGAD00001000893 HipSci - Healthy Normals - Exome Sequencing - May 2014 Illumina HiSeq 2000; 15
EGAD00010000568 HipSci - Healthy Normals - Methylation Array - May 2014 0
EGAD00001000897 HipSci - Healthy Normals - RNA Sequencing - May 2014 Illumina HiSeq 2000; 22
EGAD00010000901 Russian Tuberculosis samples using Affymetrix 6.0 Affymetrix Genome-Wide Human SNP Array 6.0 Genotypes 11937
EGAD00001001268 H9 human embryonic stem cells (hESCs) were cultured in feeder-free chemically-defined conditions in medium containing 10ng/ml Activin A and 12ng/ml FGF2 (Vallier L. 2011, Methods in Molecular Biology, 690: 57-66). Chromatin immunoprecipitation was performed as described in Brown S. et al. 2011. Stem Cells 29: 1176-85 by using 5ug of anti-DPY30 antibody (Sigma, cat. number HPA043761). This protocol was performed in control hESCs (expressing a scrambled shRNA) and in hESCs stably expressing an shRNA against DPY30 (Sigma, clone n. TRCN0000131112). This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2000; 4
EGAD00001000774 This study includes whole-genome sequencing data (at 4x depth) of 100 individuals from an Italian genetic isolate population (Carlantino, abbreviated CARL) of the Italian Network of Genetic Isolates (INGI). The INGI-CARL_SEQ project aims to combine available extensive genetic and phenotypic data to the latest high-throughput genome sequencing technology and ad hoc statistical analysis to identify new rare genetic variants underlying complex traits. Illumina HiSeq 2000; 106
EGAD00010000664 Finnish population cohort genotyping_B 340
EGAD00010000662 Finnish population cohort genotyping 7803
EGAD00010000594 SCOOP severe early-onset obesity cases 1720
EGAD00010000610 Samples from the Greek island of Crete, MANOLIS cohort 221
EGAD00001001331 The aim of this work is to apply an integrated systems approach to understand the biological underpinnings of large joint (hip and knee) osteoarthritis which culminates in the need for total joint replacement (TJR). In this pilot we will assess the feasibility of the approach in the relevant tissue. We will obtain diseased and non-diseased tissue (cartilage and endochondral bone) following TJR, coupled with a blood sample, from 12 patients. We will characterise the 12 pairs of diseased and non-diseased tissue samples in terms of transcription (RNASeq) The pilot will help assess the feasibility of isolating sufficient levels of starting material for the different approaches, and will instigate the development of analytical approaches to synthesising the resulting data. Illumina HiSeq 2000; 24
EGAD00001001332 Development of a method for separation and parallel sequencing of the genomes and transcriptomes of single cells. Illumina MiSeq;, HiSeq X Ten;, Illumina HiSeq 2500; 700
EGAD00001000647 We are sequencing the exomes of patients with paroxysmal neurological disorders mainly focusing on migraine and epilepsy. Cases are collected from performance sites of members of EuroEPINOMICS. Most cases have a strong family history. The study sample will include both cases and controls. Illumina HiSeq 2000; 110
EGAD00010000584 WTCCC2 Glaucoma samples using Illumina 670k array 2765
EGAD00010000602 WTCCC2 Reading and Mathematics ability (RM) samples from UK using the Affymetrix 6.0 array 3665
EGAD00001001897 15x whole genome sequencing in samples from the Cretan Greek isolate collection HELIC MANOLIS HiSeq X Ten; 1482
EGAD00001001025 The offspring of first cousin marriages have ~6% of their genome autozygous, i.e. homozygous identical by descent, or even more if there was further consanguinity in their ancestry. In the UK there are large populations with very high first cousin marriage rates of 50-80%. Sequencing the exomes of a sample of these individuals has the potential both to support genetic health programmes in these populations, and to provide genetic research information about rare loss of function mutations. This pilot study based on existing British-Pakistani cohort samples from Birmingham will identify homozygous individuals for almost all variants down to an allele frequency around 1%, plus individuals carrying hundreds of new homozygous rare loss-of-function variants, and will support development of community relations and ethics for a wider study currently being designed. The data deposited in the EGA consist of low coverage whole exome sequencing on these samples. Illumina HiSeq 2000; 1156
EGAD00001001027 The offspring of first cousin marriages have ~6% of their genome autozygous, i.e. homozygous identical by descent, or even more if there was further consanguinity in their ancestry. In the UK there are large populations with very high first cousin marriage rates of 20-50%. Sequencing the exomes of a sample of these individuals has the potential both to support genetic health programmes in these populations, and to provide genetic research information about rare loss of function mutations. This pilot study based on existing British-Pakistani cohort samples will identify homozygous individuals for almost all variants down to an allele frequency around 1%, plus individuals carrying hundreds of new homozygous rare loss-of-function variants, and will support development of community relations and ethics for a wider study currently being designed. The data deposited in the EGA consists of low coverage whole exome sequencing on these samples. Illumina HiSeq 2000; 130
EGAD00001001026 The offspring of first cousin marriages have ~6% of their genome autozygous, i.e. homozygous identical by descent, or even more if there was further consanguinity in their ancestry. In the UK there are large populations with very high first cousin marriage rates of 20-50%. Sequencing the exomes of a sample of these individuals has the potential both to support genetic health programmes in these populations, and to provide genetic research information about rare loss of function mutations. This pilot study based on existing British-Pakistani cohort samples from Birmingham will identify homozygous individuals for almost all variants down to an allele frequency around 1%, plus individuals carrying hundreds of new homozygous rare loss-of-function variants, and will support development of community relations and ethics for a wider study currently being designed. The data deposited in the EGA consists of low coverage whole exome sequencing on these samples. Illumina HiSeq 2000; 452
EGAD00010000630 The TEENAGE study target population comprised adolescent students aged 13–15 years attending the first three classes of public secondary schools located in the wider Athens area of Attica. 436
EGAD00010000634 WTCCC2 People of the British Isles (POBI) samples using Affymetrix 6.0 array 2930
EGAD00010000632 WTCCC2 People of the British Isles (POBI) samples using Illumina 1.2M array 2912
EGAD00010000628 The TEENAGE study target population comprised adolescent students aged 13–15 years attending the first three classes of public secondary schools located in the wider Athens area of Attica. 0
EGAD00001002194 This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ We performed exome sequencing on serial samples from a patient with CMML who progressed to AML. The exome sequencing suggests that NPM1, TET2 and DNMT3a mutations were present in the dominant clone in the CMML sample and that NRAS is a new subclonal mutation in the AML sample. Diagnostic data shows the presence of a FLT3-ITD mutation in the AML sample, which is likely to have driven progression. Here we are performing re-sequencing of the putative driver and some passenger mutations which appear to be in the same clone to validate these mutations and to verify the relative quantification of these abnormalities . Illumina MiSeq; 10
EGAD00001002195 The aim of this project is to identify rare genetic variants of large effect implicated in complex diseases by focusing on the study of cardiovascular diseases and related quantitative traits in a well characterized isolated population in Cilento area, Italy. The reference panel has been selected carefully in order to maximize the imputation coverage and quality on the all population samples. The selected individuals should meet three criteria: selected individuals should be chip-genotyped and closely related to the maximum number of chip-genotyped individuals so as to maximize imputation coverage; relatedness between selected individuals should be minimal, so as to minimize redundancy in genetic information of the reference panel. We perform exome sequencing on samples from 250 individuals from the Campora and Gioi-Cardile populations. Illumina HiSeq 2000; 247
EGAD00001002196 Our lab is currently using macrophages as a model system for understanding how genetic variation modulates the response to external environmental stimulus. We want to extend this beyond regular polyadenylated RNA to small RNAs such as miRNAs. This project would cover the costs of a pilot to study miRNA response to LPS stimulus, and will be performed as part of a rotation project in the lab. We will require a small number of miRNA libraries and a single lane of MiSeq Illumina MiSeq; 6
EGAD00001000979 We are developing a protocol to differentiate mouse and human induced pluripotent stem (IPS) and embryonic stem (ES) cells towards the haematopoietic pathway to generate erythrocytes in vitro. This system has many applications such as the study of the role of specific genes and human polymorphisms in infectious diseases such as malaria, as well as haematological diseases such as myelodysplastic syndrome. The nature of the in vitro differentiation process means that a heterogeneous population of cells is generated. In order to understand the types of cells produced with our protocol, we have performed a single cell analysis, which has the power to reveal the different populations of cells and their characteristics. For this, a cDNA library has been made that needs to be sequenced to obtain the gene expression profiles of the different cells. With this information we will be able to assess the quality of the differentiation protocol and improve it in order to produce better cells for the downstream applications. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2500; 192
EGAD00010000650 Genotypes from Omni2.5 chip 1213
EGAD00001001928 This study will analyse the guide sequence which were used for making mutations in the Cas9-expressing cells. We used GeCKO v2 library which were released by Feng Zhang, 2014. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2500; 61
EGAD00010000773 HipSci - Healthy Normals - Genotyping Array - November 2014 Illumina 580
EGAD00001001930 Cancer genes can affect ribosomal RNA processing and this can underlie their essentiality to cells, making them cell-essential in the same way as ribosomal genes themselves. We want to confirm this, in order to understand the results of our CRISPR drop-out screens. NOTE FROM BESPOKE TEAM: Run a single read 1 (forward read) of 30 bases, then an index 1 read as normal. This would fit a 50cycle kit Illumina MiSeq; 6
EGAD00001001079 The offspring of first cousin marriages have ~6% of their genome autozygous, i.e. homozygous identical by descent, or even more if there was further consanguinity in their ancestry. In the UK there are large populations with very high first cousin marriage rates of 20-50%. Sequencing the exomes of a sample of these individuals has the potential both to support genetic health programmes in these populations, and to provide genetic research information about rare loss of function mutations. This pilot study based on existing cohort samples from the Born In Bradford study will identify homozygous individuals for almost all variants down to an allele frequency around 1%, plus individuals carrying hundreds of new homozygous rare loss-of-function variants, and will support development of community relations and ethics for a wider study currently being designed. The data deposited in the EGA consist of low coverage whole exome sequencing on these samples.Data Access is controlled by the Wellcome Trust Sanger Institute DAC and the Born In Bradford Executive Group. This dataset contains all the data available for this study on 2014-11-20. Illumina HiSeq 2000; 2702
EGAD00001001092 Approximately 80% of clinically clearly diagnosed patients suffering from primary ciliary dyskinesia (PCD) cannot be assigned to a specific gene defect. Despite extensive research on PCD and despite the increasing number of PCD genes and knowledge about their sites of action as e.g structural component or cytoplasmic pre-assembly factor, the biology of motile cilia and the pathomechanism leading to PCD is largely unknown. The aim of this study is to identify novel PCD related genes and processes relevant for motile cilia function. We will perform exome sequencing, aiming on the analysis of family trios. In these families, the diagnosis of PCD is secured, but the underlying gene defects has so far not been identified. Illumina HiSeq 2000; 150
EGAD00001001216 The aim of this project is to genotype and sequence single spermatozoa from two men, one in his twenties and the other in his seventies. The resulting data is used to quantify the mutations that have arisen in the gametes of both individuals in order to better understand the effect of aging on mutation rates and modes. Project Outline. In order to quantify mutations, semen from two individuals are sequenced. 48 single sperm cells are isolated from each individual, and their DNA is extracted. The resulting genomes are amplified using PicoPlex, GenomiPhi MDA, Repli-G MDA, and MALBAC. QC step is applied to check the quality of WGA DNA using standard Sequenom plex (26 SNPs). A subset of 32 amplification products which pass the intiall QC, are genotyped using Affymetrix SNP6 chips. 12 of the genotyped amplification products are also sequenced. In addition, one multi-cell sample per individual is sequenced as a reference and for validation purposes. Altogether, 12 single cell sperm genomes and two multi-cell genomes are sequenced, coming to a total of 14 genomes. Of the single cell sperm genomes, 2 are sequenced to 50x coverage, and the other 10 to 25x coverage. Both multi-cell genomes are sequenced to 25x coverage. Illumina HiSeq 2000; 12
EGAD00001001319 The aim of this study is to ascertain whether leukaemic mutations exist within the blood of people with otherwise normal haematopoeisis. To satisfy this aim we plan to look for 7 known leukaemic mutations in the whole blood DNA of a large cohort of blood donors who have normal haematopoesis. Genomic regions around mutational sites have been amplified using a 2 step PCR process which involves barcoding of individual patients Illumina MiSeq; 5817
EGAD00010000771 HipSci - Healthy Normals - Methylation Array - April 2015 0
EGAD00010000640 WTCCC2 Visceral Leishmaniasis samples from Sudanl using Illumina 670k 21
EGAD00010000638 WTCCC2 Visceral Leishmaniasis samples from Indial using Illumina 670k 97
EGAD00010000636 WTCCC2 Visceral Leishmaniasis samples from Brazil using Illumina 670k 119
EGAD00001001363 To generate an RNA-Seq dataset for organoids apically stimulated with Salmonella Typhimurium. These data are part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2500; 12
EGAD00001001316 Exome sequence analysis of individuals with severe early onset inflammatory bowel disease, and their families. Individuals are ascertained through the COLORS in IBD study, which includes centres throughout UK and Europe. Illumina HiSeq 2000; 138
EGAD00001001317 This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina MiSeq; 12
EGAD00001001320 This is a study to test ATAC-seq protocols. CD4+ and CD8+ cells have been obtained from three different anatomical compartments. We aim to assay open-chromatin regions across these cells and perform comparative analyses. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina MiSeq; 138
EGAD00010000724 Pilot experiment on functional genomics in osteoarthritis (methyl) 0
EGAD00001001347 Exome sequencing of a case of lethal EBV-driven LPD Illumina HiSeq 2000; 3
EGAD00010000730 WTCCC2 Psychosis Endophenotype samples from UK, Germany, Holland, Spain and Australia using the Affymetrix 6.0 array 1
EGAD00001001373 The mtDNA and Y chromosome of up to 15 Australian Aborigines, concentrating on individuals with indigenous lineages, will be sequenced using the standard whole-genome sequencing followed by filtering out of autosomal and X sequences, so that only mtDNA and the Y chromosome will be analysed and released. Illumina HiSeq 2000; 7
EGAD00001001372 All humans outside Africa are descendants of the same single exit, usually dated at 50-70 thousand years ago. However, the route taken out of Africa is still debated. The two main candidates are a northern route via Egypt and the Levant, or a southern route via Ethiopia and the Arabian Peninsula. We are generating genetic data to evaluate these two possibilities. In this study we propose to generate low-coverage sequencing data for 100 Egyptian samples. Illumina HiSeq 2000; 100
EGAD00010000722 Pilot experiment on functional genomics in osteoarthritis (coreex) 1
EGAD00001001380 All humans outside Africa are descendants of the same single exit, usually dated at 50-70 thousand years ago. However, the route taken out of Africa is still debated. The two main candidates are a northern route via Egypt and the Levant, or a southern route via Ethiopia and the Arabian Peninsula. We are generating genetic data to evaluate these two possibilities. In this study we propose to generate high-coverage sequencing data for 3 Egyptian samples. Illumina HiSeq 2000; 3
EGAD00001001393 The aim of this study is to assess translational changes in macrophages over a time course of Salmonella infection. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2000; 52
EGAD00010000768 Replication data for HipSci normal samples using both HumanCoreExome-12_v1 and HumanOmni2.5-8 BeadChips 0
EGAD00010000766 We have established a mechanism for the collection of postal DNA samples from consenting National Joint Registry for England and Wales (NJR) patients and have carried out genotyping genome-wide in 903 patients with the condition Developmental Dysplasia of the Hip (DDH) on the Illumina CoreExome array 903
EGAD00001001437 HipSci - Healthy Normals - Exome Sequencing - April 2015 Illumina HiSeq 2000; 136
EGAD00001001438 HipSci - Healthy Normals - RNA Sequencing - May 2015 Illumina HiSeq 2000; 131
EGAD00001001425 The objectives of this project are the identification of markers related to cancer therapy resistance in the blood of breast cancer patients and to study the genetic changes in cancer cells during this development of resistance. Whole genome amplified DNA from Circulating Tumor Cells (CTCs), selected during the course of systemic treatment from blood of metastatic breast cancer patients, will be exome sequenced . The patients selected for this study did not respond to therapy. Illumina HiSeq 2000; 149
EGAD00010000807 Illumina HumanCoreExome genotyping data from the British Society for Surgery of the Hand Genetics of Dupuytren's Disease consortium (BSSH-GODD consortium) collection 4201
EGAD00010000918 Understanding Society GWAS, samples that passed quality control, imputed to UK10K + 1000 Genomes combined reference panel Illumina HumanCoreExome-12v1-0 chip, UK10K + 1000 Genomes combined reference panel imputed 9944
EGAD00001001440 This project entailed generation of high depth WGS (30x) of 100 individuals from the general Greek population. HiSeq X Ten; 100
EGAD00001001442 This project is to explore the contribution of de novo mutations to severe structural malformations diagnosed prenatally using ultrasound. These malformations include heart, CNS, renal and GI abnormalities. In this pilot project we aim to exome sequence 30 parent-foetus trios to ~50X mean coverage and identify de novo functional variants using an algorithm developed in the Hurles group Illumina HiSeq 2000; 86
EGAD00001001454 Previously we performed deep WGS on 6 parents and 13 children from 3 large families from the Scottish Family Health Study to identify de novo mutations. This prelim is cover the additional sequencing of one grandchild from one of these three families. The inclusion of a third generation individual will provide additional experimental validation for the de novo mutations found in the initial trio. As in the previous study, the DNA will be WGS to a depth of approximately 25X to achieve this purpose. These data can only be used for the investigation of the genetic causes of the reported clinical phenotypes in these patients Illumina HiSeq 2000; 1
EGAD00001001460 Whole-exome sequencing of a cohort of families (probands and affected/unaffected relatives) suffering from one of two rare thyroid disorders: congenital hypothyroidism (CH) and resistance to thyroid hormone (RTH). This dataset contains all the data available for this study on 2015-08-05. Illumina HiSeq 2000; 62
EGAD00001001636 Whole-genome sequencing at 4x of 250 samples from the Greek isolate collection HELIC Illumina HiSeq 2000; 250
EGAD00001001638 The HELIC study has been whole genome sequencing individuals from 2 Greek isolated populations at 1x depth. The genotype calling process crucially involves a VQSR step followed by imputation-based refinement. We have been investigating optimal ways to increase calling accuracy. To aid us in setting appropriate parameters for VQSR and other QC steps, we have carried out whole exome sequencing of a small number of HELIC samples. Illumina HiSeq 2000; 5
EGAD00001001637 Whole-genome sequencing at 1x of samples from the Cretan Greek isolate collection HELIC-MANOLIS. Genome-wide association studies of complex traits have been successful in identifying common variant associations, but a substantial heritability gap remains. The field of complex trait genetics is shifting towards the study of low frequency and rare variants, which are hypothesised to have larger effects. The study of these variants can be empowered by focusing on isolated populations, in which rare variants may have increased in frequency and linkage disequilibrium tends to be extended. This work focuses on an isolated population from Crete, Greece. Sequencing is very efficient in isolated populations, because variants found in a few samples will be shared by others in extended haplotype contexts, supporting accurate imputation. Illumina HiSeq 2000; 1003
EGAD00001001686 In the autozygosity exome sequencing of Born-in-Bradford samples of Pakistani origin there is a mother who is homozygous for an apparent truncating stop codon in PRDM9, the gene responsible for localising recombination during meiosis. We plan to deep sequence mother and child with X10, and physically phase the mother with PacBio sequencing. We will use this data to identify recombination locations, and test whether these are consistent with the known fine scale recombination map. Data Access is controlled by the Wellcome Trust Sanger Institute DAC and the Born In Bradford Executive Group. Illumina HiSeq 2500; 2
EGAD00001001946 The Prenatal Assessment of Genomes and Exomes (PAGE) study is a multicentre prospective trial, performing exome sequence analysis on samples from 1000 families with structural anomalies in prenatal ultrasound screening but normal aneuploidy results. The data will enable discovery of novel genetic disorders and increase the diagnostic yield. Where appropriate, results will be reported back to the families at the end of the pregnancy, after thorough clinical review. Ultimately, the translation of the acquired know-how into cost-effective prenatal diagnostic sequencing will improve genetics-derived prognoses and allow more informed parental counselling as well as management of pregnancy and childbirth. Illumina HiSeq 2000; 489
EGAD00010000854 WTCCC3 UK maternal cases of pre-eclampsia Illumina Human670-QuadCustom_v1 1990
EGAD00001001973 Exome sequencing of 184 samples from consanguineous families with different congenital heart defects collected at KAIMRC, Riyadh, Saudi Arabia. Illumina HiSeq 2000;, Illumina HiSeq 2500; 179
EGAD00001001986 This study is meant to gain further knowledge in haematological cancers. Patients samples (mainly DNAs or PCR products) from haematolocical cancer patients will be sequenced, and the outputs will be correlated to their diagnosis and/or prognosis; the findings may also add more insight into the understanding of biology in this type of tumour. We will be sequencing Primary Testicular Lymphomas (PTL) to identify genetic drivers of this rare cancer Illumina HiSeq 2500; 7
EGAD00001000440 UK10K_NEURO_GURLING REL-2013-04-20 Illumina HiSeq 2000;ILLUMINA 46
EGAD00010000950 WTCCC2 Bacteraemia Susceptibility (BS) smaples using Affymetrix 6.0 Affymetrix 6.0 4924
EGAD00001000740 UK10K_COHORT_ALSPAC REL-2012-06-02: Low-coverage whole genome sequencing; variant calling, genotype calling and phasing Illumina HiSeq 2000 (ILLUMINA) 2320
EGAD00001001933 HipSci - Healthy Normals - RNA Sequencing - January 2016 Illumina HiSeq 2000;ILLUMINA 181
EGAD00001001106 In the first part of this project, we will differentiate IPS cells from 5 human donors into macrophages, and extract RNA from unstimulated and LPS stimulated macrophages to perform RNA sequencing. We will also extract RNA before and after stimulation in blood- derived macrophages from 5 additional, unrelated healthy samples. In the second part of the project, RNA-seq data will be analysed to compare LPS response of these two macrophage populations. In summary, we will perform 75bp PE RNA-seq on 20 samples (10 pre and post stimulus), on the HiSeq 2500 platform. Samples will be multiplexed at 5 samples / lane, so we will require 4 flow cells in total. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2000; 18
EGAD00010000909 HipSci - Embryonic Stem Cells - Methylation Array - April 2016 Illumina 2
EGAD00001001932 HipSci - Healthy Normals - Exome Sequencing - January 2016 Illumina HiSeq 2000; 262
EGAD00010000891 Understanding Society GWAS, samples that passed quality control Illumina HumanCoreExome-12v1-0 9944
EGAD00001001634 This dataset includes the whole genomes, sequenced to high depth (30x) of 25 individuals from Papua New Guinea. The individuals were chosen from several geographically distinct Papuan groups, focusing on the highland regions: Bundi, Kundiawa, Mendi, Marawaka and Tari. HiSeq X Ten; 25
EGAD00001002193 Single case of T-ALL carrying t(4;6), a novel translocation. Illumina HiSeq 2000; 1
EGAD00010000775 HipSci - Healthy Normals - Expression Array - November 2014 Illumina 580
EGAD00001001999 HipSci - Embryonic Stem Cells - Exome Sequencing - April 2016 Illumina HiSeq 2000; 2
EGAD00001002000 HipSci - Embryonic Stem Cells - RNA Sequencing - April 2016 Illumina HiSeq 2000; 2
EGAD00001002014 Isolated populations have unique population genetics characteristics that can help boost power in genetic association studies for complex traits. Leveraging these advantageous characteristics requires an in-depth understanding of parameters that have shaped sequence variation in isolates. This study performs a comprehensive investigation of these parameters using low-depth whole genome sequencing (WGS) across multiple isolates. 6840
EGAD00010000910 HipSci - Embryonic Stem Cells - Expression Array - April 2016 Illumina 2
EGAD00010000911 HipSci - Embryonic Stem Cells - Genotyping Array - April 2016 Illumina 2
EGAD00001002050 In this project we will use exome sequencing to identify somatic mutations in lesions from a patient with a germline mutation in the protection of telomeres 1 gene (POT1). This dataset contains all the data available for this study on 2016-04-20. Illumina HiSeq 2000; 36
EGAD00010001330 HipSci - Healthy Normals - Expression Array - July 2017 Illumina 1
EGAD00001002226 1. Odors are detected, firstly, by olfactory sensory neurons (OSNs) in the olfactory epithelium of the nose. This neurons then project directly to the olfactory bulb in the brain. Olfaction depends on cellular regeneration of the OE, olfactory bulb and hippocampus, and on their continual re-wiring. The olfactory neural pathway includes regions of the frontal, temporal and limbic brain, which in turn overlap with brain areas involved in brain disorders. OSNs are the only aspect of the human brain exposed to the external environment. This not only makes them vulnerable to environmental changes, but also accessible for biomedical studies. We have already sequenced and developed a protocol for analyzing the transcriptome of mouse main olfactory epithelium and single OSNs. We propose here to perform a similar study for samples from the human olfactory epithelium. We have developed a minimally invasive method for obtaining human OSNs, among other cells from the nasal epithelium. In this experiment, we have obtained cell samples from the olfactory epithelium, including OSN, from healthy volunteers. We would like to further characterize them by RNA sequencing. This will give us valuable insight into human olfaction. It will also provide a first step into a new avenue to study, and find biomarkers for, brain diseases though the analysis of these easily available neurons. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2500; 8
EGAD00001002227 In collaboration with Dr David Savage, we have identified a patient with a very unusual phenotype, lacking almost all visceral fat, but showing a massive accumulation of white fat tissue behind her neck and significantly elevated liver fat. Whole exome sequencing of the proband and her unaffected parents and brother has been run previously, however no causative variant has been found and the sequencing coverage was generally poor. We propose to conduct whole genome sequencing of all 4 family members at a depth of 30X. HiSeq X Ten; 3
EGAD00010000928 WTCCC3_Primary Biliary Cirrhosis Replication Post-QC Illumina ImmunoChip 2861
EGAD00010000929 WTCCC3_Primary Biliary Cirrhosis Replication Illumina ImmunoChip 2981
EGAD00001002144 The morphology of the first humans in the Americas (Paleoamericans) differs from that of Native Americans, and has raised the question of whether or not there are also differences in origin or genetics. A few populations who survived until relatively recently have been suggested to retain Paleoamerican morphology. One of these populations is from La Jolla. Here, we have generated genome sequence data from four La Jolla individuals in order to investigate these questions This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2000; 4
EGAD00001002178 The study will analyse by exome sequencing 8 Greek family members with an excess of potentially damaging mutations relating to premature MI and no vessel disease, to identify genetic factors underlying this condition. This is a follow on from project GPMI-NVD Illumina HiSeq 2000; 8
EGAD00001002179 Background: A rare subgroup of HIV infected individuals naturally controls infection without treatment. These ?elite controllers? constitute an important model for the natural control of HIV infection. Indeed, the study of these individuals may provide insights into strategies for the development of HIV vaccines. Although several HLA and chemokine alleles are known to be over-represented in elite controllers, only a small portion of HIV phenotypic variation is explained by known genetic variants. The elite controller phenotype is rare and distinct, representing the extreme of an infectious disease trait. As such, this phenotype may be partly explained by variation in host immune control, which may be characterized by differences in rare functional genetic variants. Genomic regions underlying elite control can be potentially identified by comparing the presence or frequency of variants in this group to that representing the opposite extreme. In this context, ?rapid progressors? is a group defined by its rapid immunological and clinical disease progression. Aim: To extend an existing study, in order to identify DNA sequence variants involved in the control of HIV infection with greater statistical resolution. Specifically, we aim to sequence up to 200 exomes from multiple cohort studies within the EuroCoord CASCADE collaboration (a collaboration of 25 HIV seroconversion cohort studies across Europe). Illumina HiSeq 2000; 183
EGAD00001002180 Targeted pulldown of genes known to be recurrently mutated in AML & MDS from patient and normal samples using Agilent Sureselect and for some cases also using Illumina Truseq technology. Illumina HiSeq 2000; 288
EGAD00001002181 Barrett?s oesophagus is common in the UK affecting 2 % of the population. Family history has been recorded among the 4000 Barrett's cases collected so far and have 241 families. Among them we have assessed 6 multiplex families with proven Barrett?s and defined as having 1 pro band and at least 3 affected first degree members. We propose to exome sequence the probands of these six families to assess the presence of pathogenic rare coding variants. Illumina HiSeq 2000; 6
EGAD00001002182 The BMP antagonist Grem1 has been shown to be associated with a rare human polyposis syndrome (HMPS). We have shown that there is a 40KB duplication on chrom 15 found in some patients with HMPS. Traditional serrated adenomas (rare sporadic polyps) share some morphological features with HMPS polyps and it has long been hypothesised that they are the sporadic version of HMPS polyps. We have obtained of one of these lesions and in this project we aim to characterise this tumour. Illumina HiSeq 2000; 2
EGAD00001002183 This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2000; 96
EGAD00001002184 Sequencing of rare human histiocytic tumour Illumina HiSeq 2000; 2
EGAD00001002185 Exome sequencing of 32 patient samples from Sri Lanka with the condition haemoglobin E beta thalassaemia Illumina HiSeq 2000; 32
EGAD00001002186 Around 10% of patients who present in melanoma clinics have a first degree relative with a previous diagnosis of melanoma. While around 3% have three or more relatives who have been diagnosed with the disease. In this project we will whole genome sequence patients from large Dutch familial melanoma pedigrees to identify mutations in genes that drive melanomagenesis. The identification of these genes will facilitate the management of familial melanoma patients and their families. Illumina HiSeq 2000;, Illumina HiSeq 2500; 38
EGAD00001002197 Recent GWAS studies have made extensive use of large eQTL data sets to functionally annotate index SNPs. With a large number of association signals located outside coding regions there has been an intense search among sequence variants affecting gene expression at the transcriptional level. However, little progress has been made in mapping regulatory variants that affect protein levels at the translational or post-translational level. It is now possible to undertake a protein QTL scan for focused sets of e.g. oxidized proteins by mass spectrometry. We have established a collaboration with a longitudinal, family-based study in France, the Stanislas cohort, which comprises circa 1000 nuclear families (4,295 individuals) and has follow up data for 10 years (three visits). We have undertaken a pilot study in a focus set of 257 subjects from 79 families with the aim to integrate GWAS, transcriptomic and DNA methylation data with proteomic data on a set of 100 proteins measured in PBMCs. We have already generated GWAS data using Illumina's core-exome chip as well as DNA methylation profiles with the 450K array. We propose to use RNA seq to generate transcriptomic data of the corresponding PBMCs. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2500; 155
EGAD00001002198 This set of samples is composed of eight young people (7-16 years old) that have developed melanoma with first-degree relatives that have also developed cancer, which suggests a genetic component to their disease. Here we want to sequence these samples in order to find the causative mutations. As these samples do not carry any of the high-penetrance mutations known to date, finding the genes(s) responsible will offer new insights into the genetic mechanisms underlying predisposition to melanoma. HiSeq X Ten;, Illumina HiSeq 2000; 7
EGAD00001002199 Sequencing of rare human histiocytic tumour Illumina HiSeq 2000; 2
EGAD00001002200 Whole exome sequencing of families with Congenital Heart Defects (182 trios). Collaboration with David Brook, University of Nottingham. Illumina HiSeq 2000; 541
EGAD00001002205 The BLUEPRINT project is a large-scale project investigating epigenetic mechanisms involved in blood formation, in health and disease. The human variation workpackage (WP10, led by NS) of the project seeks to characterize the effect of common sequence variation on the epigenome status of a cell. To do this, the project will use highly purified blood cells to minimise "experimental noise" and therefore enhance the power to discover modest effects. Two peripheral blood cell types, the CD14+CD16- monocyte (an important central orchestrator of adaptive immunity and a bridge between innate and adaptive immunity) and the CD65+CD9- neutrophilic granulocyte (the frontline cell for innate immunity) have been selected for this purpose. The two types of cells will be obtained at high purity from adult blood (AB) of 200 healthy males and females, respectively. Cells will be purified by using already validated and fully operational protocols that are based on density gradient centrifugation of the buffy coat obtained from whole blood, followed by magnetic bead-based purification using monoclonal antibodies against Cluster of Differentiation (CD) lineage-specific cell surface markers. Units of 475 ml of AB will be obtained from consenting volunteers of the Cambridge BioResource (CBR), a panel of 10,000 healthy volunteers local to Cambridge who have already consented to participate in biomedical research and of whom biological samples (DNA, plasma, serum) and lifestyle data have been deposited in a repository and database, respectively. We are requesting funding from the Human Diversity project to sequence the genomes of the 200 CBR volunteers at low pass (6x coverage). Nuclei, DNA and RNA will be recovered from the purified cells and made available for RNA-seq, DNA-seq and ChIP-seq and genomic DNA for entire genome sequencing will be recovered from the DNA repository. Illumina HiSeq 2000;, Illumina HiSeq 2500; 155
EGAD00001002207 Our aim is to identify genes involved in resistance to anti-cancer therapies. In order to do this we have taken advantage of a lentiviral vector (LV)-based insertional mutagen to mutagenize cancer cell lines. LV-transduced cell lines were then treated with anti-cancer therapies and the emergence of resistant clones scored. DNA from pools of resistant clones was collected, subjected to custom capture by baits designed against the LV sequence, and then sequenced to identify the LV-genomic junction. We hope that the identification of recurrently targeted genes in resistant cell population will allow us to identify genes that mediate drug resistance. Illumina MiSeq;, Illumina HiSeq 2500; 71
EGAD00001002208 Exome sequencing of short SGA children with IGF-I and insulin resistance. Collaboration with Professor David Dunger, University of Cambridge. Funded by NIHR. Illumina HiSeq 2000; 15
EGAD00001002210 Congenital anosmias can be complete (the lack of a sense of smell) or specific (the inability to detect specific smells). To date, only a single recessive gene underlying complete anosmia has been identified. Here we sequenced the exomes of 10 individuals from a single family, including three with complete anosmia, across three generations to identify the genetic basis of congenital anosmia in this family. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2000; 10
EGAD00001002211 Given the central importance of Africa to studies of human origins, genetic diversity and disease susceptibility, large-scale and representative characterisation of genetic diversity in Africa is needed. Analyses of ancient DNA from Africa would complement sequencing of modern African populations and provide unique opportunities to transform our understanding of the pre-history of the region. This approach would greatly refine our understanding of population structure and gene flow in Africa and globally, including genetic signatures of ancient admixture. This low coverage sequencing experiment will allow us to test and refine our pipeline for ancient DNA sequencing. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2000; 6
EGAD00001002212 Non-syndromic cases of congenital heart defects (CHD) exhibit variable modes of inheritance (Mendelian and non-Mendelian). Several studies have identified strong candidates in humans by taking a candidate gene approach as well as by using whole exome next generation sequencing (NGS). So far these studies could only explain a minor fraction of the observed phenotype in humans, most of them in syndromic cases and no single study has focused on the subset of cases with left ventricular outflow tract obstruction (LVOTO). To discover novel disease-causing genes a large cohort of patients with LVOTO, approximately 100 cases, 25 families and 100 trios have been exome sequenced. This study based on NGS sequencing data yielded several known and novel compelling candidate genes, such as MYH6, NR2F2 and MYH11, but also novel ones, such as ITGB4. To evaluate the significance of our findings in a replication cohort we assembled another 1614 cases with an LVOTO phenotype from our collaborators in Toronto, Berlin and Amsterdam. Targeted resequencing in this additional cohort will help to find additional cases with mutations in the identified candidate genes to strengthen genotype-phenotype association. We will use control data from the INTERVAL project for case/control analyses The pulldowns will be performed as 24-plex ISC with 192 or greater indexes, and the sequencing will be performed with 192 samples per lane, requiring 9 lanes of sequencing. Illumina HiSeq 2000; 1376
EGAD00001002213 This study involves exome sequencing of blood/bone marrow DNA from patients with myeloid malignancies. Blood DNA samples have been taken from patients at different timepoints of disease phenotype. We hope to elucidate mechanisms of clonal evolution in these patients. Illumina HiSeq 2000; 32
EGAD00010000777 HipSci - Bardet-Biedl Syndrome - Genotyping Array - November 2014 0
EGAD00010000779 HipSci - Monogenic Diabetes - Genotyping Array - November 2014 Illumina, unknown 9
EGAD00001002228 Congenital anosmias can be complete (the lack of a sense of smell) or specific (the inability to detect specific smells). Here we obtained genomic DNA from families with multiple individuals with anosmia, suggesting they are congenital. These include those inherited in a manner consistent with dominant and recessive alleles. We have sequenced the exomes of both affected and unaffected family members on the Illumina platform. Illumina HiSeq 2000; 24
EGAD00001002230 Patient-derived xenografts (n=96) were derived from metastatic melanoma patients. RNA expression profiling will be preformed to study 1. HLA-typing and 2. the effect of the tumour microenvironment on tumour growth This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2000; 96
EGAD00001001951 HipSci - Monogenic Diabetes - Exome Sequencing - January 2016 Illumina HiSeq 2000;ILLUMINA 20
EGAD00001002233 RNA sequencing of peripheral immune cells from patients +/- an IBD risk variant. Peripheral immune cells +/- in vitro test compound treatment. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2000; 24
EGAD00001002235 Many studies over the past 10 years, culminating in the recent report of the International Stem Cell Initiative (ISCI, 2011) have shown that hPSC acquire genetic and epigenetic changes during their time in culture. Many of the genetic changes are non-random and recurrent, probably because they provide a selective growth advantage to the undifferentiated cells. Some are shared by embryonal carcinoma cells, the malignant counterparts of ES cells. The origins of these growth advantages are poorly understood, but may come from altered cell cycle dynamics, resistance to apoptosis or altered patterns of differentiation. Less is known about the nature and consequences of epigenetic changes, but it is likely that these similarly affect hPSC behaviour; e.g., enhanced expression of DLK1, an imprinted gene, is associated with altered hPSC growth (Enver et al 2005). Inevitably, these genetic and epigenetic changes will impact on our ability to use hPSC for regenerative medicine, either because malignant transformation of the undifferentiated cells or their differentiated derivatives to be used for transplantation compromises safety, or because they impede the function of those differentiated derivatives, or because they affect the efficiency with which the undifferentiated cells can be expanded and differentiated into desired cell types. Focusing initially upon the existing clinical grade hESC lines, later moving to iPSC, we will Consolidate and extend knowledge of the rate, type and functional impact of the genetic variations that occur during hPSC culture. We will use whole genome and exome sequencing as well as SNP arrays, together with clonal analysis and other cytogenetics techniques. Common changes will be compared with those found in the normal human population, at low frequency in the original cell population or observed during iPSC generation in the HIPSCI project currently based at the WTSI. These studies will provide a better understanding of the range of genetic changes that occur in hPSC beyond the CNVs already identified. In conjunction with cancer genome resources and expertise at WTSI, bioinformatic analyses of these hPSC data will allow us to assess potential impact on hPSC behaviour pertinent to applications in regenerative medicine, notably the likelihood that specific changes arising in undifferentiated PSC cultures may be associated with potential malignant transformation of differentiated progeny. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2000; 80
EGAD00001002251 Exome sequencing of families with Congenital Heart Defects of diverse sub-phenotypes. Comprises both parent-offspring trios for sporadic cases and multiplex families. Collaboration with David Brook, University of Nottingham. Funded by the British Heart Foundation. Illumina HiSeq 2000; 646
EGAD00010001004 WTCCC1 project samples from 1958 British Birth Cohort Infinium 550K 1504
EGAD00010001005 Illumina HumanCoreExome-12v1-1_A chip typing in a Greek adolescent population Illumina Human Core Exome 12v1.1 120
EGAD00010000781 HipSci - Bardet-Biedl Syndrome - Methylation Array - April 2015 0
EGAD00010000817 HipSci - Monogenic Diabetes - Methylation Array - April 2015 0
EGAD00010000783 HipSci - Bardet-Biedl Syndrome - Expression Array - November 2014 0
EGAD00010000785 HipSci - Monogenic Diabetes - Expression Array - November 2014 0
EGAD00010000923 Subset 2 of osteoarthritis cases from the arcOGEN Consortium (http://www.arcogen.org.uk/) genotyped on HumanCoreExome-12v1-0 with consent for osteoarthritis studies only. Illumina HumanCoreExome-12v1-0 463
EGAD00010000922 Subset 1 of osteoarthritis cases from the arcOGEN Consortium (http://www.arcogen.org.uk/) genotyped on HumanCoreExome-24v1-0 with broader consent. Illumina HumanCoreExome-24v1-0 494
EGAD00010000925 Subset 1 of osteoarthritis cases from the arcOGEN Consortium (http://www.arcogen.org.uk/) genotyped on HumanCoreExome-12v1-0 with broader consent. Illumina HumanCoreExome-12v1-0 855
EGAD00010000926 Subset 1 of osteoarthritis cases from the arcOGEN Consortium (http://www.arcogen.org.uk/) genotyped on HumanCoreExome-12v1-1 with broader consent. Illumina HumanCoreExome-12v1-1 3075
EGAD00010000927 Subset 2 of osteoarthritis cases from the arcOGEN Consortium (http://www.arcogen.org.uk/) genotyped on HumanCoreExome-24v1-0 with consent for osteoarthritis studies only. Illumina HumanCoreExome-24v1-0 248
EGAD00010000924 Subset 2 of osteoarthritis cases from the arcOGEN Consortium (http://www.arcogen.org.uk/) genotyped on HumanCoreExome-12v1-1 with consent for osteoarthritis studies only. Illumina HumanCoreExome-12v1-1 991
EGAD00010000744 Subset 2 of osteoarthritis cases genotyped on Illumina 610k from the arcOGEN Consortium (http://www.arcogen.org.uk/) with consent for osteoarthritis studies only. 2326
EGAD00010000742 Subset 1 of osteoarthritis cases genotyped on Illumina610k from the arcOGEN Consortium (http://www.arcogen.org.uk/) with broader consent. 5383
EGAD00010000740 Osteoarthritis cases genotyped on Illumina HumanOmniExpress from the arcOGEN Consortium (http://www.arcogen.org.uk/) with broader consent. 674
EGAD00010001040 Methylation changes in OA patients with chronic exposure to cobalt and chromium Illumina HumanMethylation450 68
EGAD00010001034 WTCCC3 Anorexia Nervosa GWAS Illumina Human670-QuadCustom_v1_A 1696
EGAD00010001043 WTCCC3 Anorexia Nervosa Infinium-HumanCoreExome Illumina HumanCoreExome-12v1-0_A and HumanCoreExome-24v1-0_A 925
EGAD00010000518 Samples from the Greek island of Crete, MANOLIS cohort HumanExome_12v1.1_A -GenCall, zCall 1280
EGAD00001001949 HipSci - Monogenic Diabetes - Exome Sequencing - April 2015 Illumina HiSeq 2000; 1
EGAD00001001953 HipSci - Monogenic Diabetes - RNA Sequencing - April 2015 Illumina HiSeq 2000; 1
EGAD00010001101 Genotype data from Chad, Lebanon, and Yemen Illumina HumanOmni2.5-8 v1.1 B 20
EGAD00010001102 Genotype data from Chad, Lebanon, and Yemen Illumina HumanOmni2.5-8 v1.2 A 126
EGAD00001001950 HipSci - Bardet-Biedl Syndrome - Exome Sequencing - January 2016 Illumina HiSeq 2000;ILLUMINA 20
EGAD00010000874 Understanding Society Sequenom genotypes Sequenom 4295
EGAD00010000890 Understanding Society GWAS, all samples Illumina HumanCoreExome-12v1-0 10463
EGAD00010001103 Genotype data from Chad, Lebanon, and Yemen Illumina HumanOmni2.5-8 v1.1 B 238
EGAD00001001954 HipSci - Bardet-Biedl Syndrome - RNA Sequencing - January 2016 Illumina HiSeq 2000;ILLUMINA 19
EGAD00001001952 HipSci - Bardet-Biedl Syndrome - RNA Sequencing - April 2015 Illumina HiSeq 2000;ILLUMINA 3
EGAD00001002729 Haplotype Reference Consortium Release 1.1 - subset for release via the EGA 11227
EGAD00001002742 Whole-genome sequencing data from Chad and Lebanon. HiSeq X Ten;ILLUMINA, Illumina HiSeq 2500;ILLUMINA 15
EGAD00001002743 These samples comprise both melanoma cases and controls sequenced for a selection of loci linked to disease susceptibility. These bams are a subset of the sequencing restricted specifically to the GRCh37 coding areas of the BAP1 gene. 3186
EGAD00001003097 High-coverage sequencing data from 47 Yemenis samples HiSeq X Ten;ILLUMINA 47
EGAD00001003347 This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ This dataset contains all the data available for this study on 2017-05-24. Illumina HiSeq 2000;ILLUMINA 76
EGAD00001003098 Low-coverage sequencing data from 99 Lebanese samples Illumina HiSeq 2500;ILLUMINA 99
EGAD00001003214 This project aims to sequence whole genomes of individuals with Aboriginal Australian ancestry. The genetic history of Australian Aboriginals is thought to be a key component for the understanding of human migrations outside of Africa, yet very few genetic studies have been done on this population to date. Likewise, little is known about the current day genetic landscape of Australian Aboriginals. The novel feature of these individuals is that some carry self-stated Tasmanian ancestry. By sequencing whole genomes and comparing them to other genetic data from Australia and the rest of the world this study will contribute to an increased understanding of the genetics of this population. HiSeq X Ten;ILLUMINA 8
EGAD00010001139 HipSci - Healthy Normals - Methylation Array - October 2016 Illumina 181
EGAD00010001145 HipSci - Bardet-Biedl Syndrome - Methylation Array - October 2016 Illumina 45
EGAD00010001143 HipSci - Healthy Normals - Expression Array - September 2016 Illumina 613
EGAD00010001147 HipSci - Healthy Normals - Genotyping Array - September 2016 Illumina 613
EGAD00010001149 HipSci - Monogenic Diebetes - Methylation Array - October 2016 Illumina 35
EGAD00010001157 Genotyping of additional Inflammatory Bowel Disease cases - 2014 (QC pass samples) Illumina Human Core Exome 12v1-1_a 9247
EGAD00010001158 Genotyping of additional Inflammatory Bowel Disease cases - 2014 (all samples) Illumina Human Core Exome 12v1-1_a 11767
EGAD00001002221 Whole exome sequencing of a subset of participants from the INTERVAL study. Illumina HiSeq 2000; 4502
EGAD00001003204 Understanding how cells sense and respond to their environment, and how these responses are modulated by genetic variation, are fundamental biological problems, particularly for understanding how pathogenic organisms invade and manipulate the cells of the human immune system. Macrophages recognize and respond to many important human pathogens including HIV-1, Mycobacteria tuberculosis and Salmonella. This study will focus on the cellular response of human macrophages to Salmonella infection and how this response is modulated by the genetic bacground of the individual as well as additional pro-inflammatory stimulus (interferon-gamma priming). We will acquire 100 human induced pluripotent stem cell lines from the HipSci project, differentiate the cells in vitro into macrophages and expose them to four environmental conditions: (i) no stimulation, (ii) interferon-gamma (18h), (iii) Salmonella typhimurium SL1344 (5h), (iv) interferon-gamma (18h) + Salmonella (5h).Subsequently, we will isolate RNA from the samples for sequencing. Illumina HiSeq 2500;ILLUMINA 236
EGAD00001003181 HipSci - Bardet-Biedl Syndrome - RNA Sequencing - October 2016 Illumina HiSeq 2000;ILLUMINA, Illumina HiSeq 2500;ILLUMINA 37
EGAD00001003213 The olfactory gene repertoire is largely species-specific, shaped by the nature and necessity of chemosensory information for survival in each species' niche. We are intrigued by this interspecific variation and started to investigate the olfactory transcriptome in primates for evidence of selection at the level of receptor gene choice. Having collected this data from two primates, we now wish to extend the analysis to humans. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2500;ILLUMINA 9
EGAD00001001955 HipSci - Monogenic Diabetes - RNA Sequencing - January 2016 Illumina HiSeq 2000;ILLUMINA 20
EGAD00001003180 HipSci - Monogenic Diabetes - RNA Sequencing - October 2016 Illumina HiSeq 2000;ILLUMINA, Illumina HiSeq 2500;ILLUMINA 35
EGAD00001003237 Primary mucosal melanomas (MMs) arise from melanocytes located in mucosal membranes lining the respiratory, gastrointestinal and urogenital tracts. MMs frequently present late and have a poor prognosis; the 5-year survival rate is only 14%. MM makes up only ~1.4% of all melanomas and it is this rarity that makes knowledge of the genetic changes that contribute to its pathogenesis limited to a small number of exome/genome studies and other targeted studies. Thus to investigate the somatic alterations and mutation spectra in MM genomes, we have extracted genomic DNA from formalin-fixed, paraffin-embedded (FFPE) human MMs, and subjected them to whole exome sequencing. Given the propensity of MM to metastasize, we will also be sequencing metastatic MM lesions; primary and metastatic lesions from the same individual represent an excellent opportunity to identify potential drivers of metastasis in MM. Finally we will sequence 'normal' DNA from the same individual, where possible, to exclude germline variations. Illumina HiSeq 2000;ILLUMINA 141
EGAD00001003241 Toxoplasmosis is a zoonotic disease caused by a ubiquitous protozoan parasite called Toxoplasma gondii, which can infect all mammal and bird species throughout the world. seroprevalence varies widely between countries. Studies have estimated that between 7-34% of people in the UK have been infected with T. gondii. The vast majority of these people will not have noticed any symptoms, however about 10% of people develop a mild to moderate self limiting flu-like illness. Following the acute active stage of the infection the parasite persists in the body in the form of cysts, particularly in heart and skeletal muscle and nervous system tissues, for many years, and usually for life. In immunocompetent persons these cysts do not pose a health risk. We will use RNA-seq to quantify the transcriptional response of macrophages to T gondii infection. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2000;ILLUMINA 18
EGAD00001003244 We aim to sequence the mRNA transcriptome of 22 human melanoma cell lines in biological triplicate in order to define the gene expression profile of each cell line. The data will be correlated to the mutation status and the sensitivity to a panel of drugs in order to identify genes whose deregulation is associated to drug resistance This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2000;ILLUMINA 66
EGAD00001003245 We aim to sequence the small RNAs of 22 human melanoma cell lines in biological triplicate in order to define the microRNAs expression profile of each cell line. The data will be correlated to the mutation status and the sensitivity to a panel of drugs in order to identify genes whose deregulation is associated to drug resistance This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2500;ILLUMINA 66
EGAD00001003250 1cm biospies of from patients undergoing bladder cystectomy will be collected. The underlying muscle and stroma will be removed and the remaining epithelia dissected into small sequential areas which will be sent for ultra-deep exome sequencing using a panel of known cancer and viral genes. Sequence analysis using similar methods to Martincorena I et al (Science 2015, 348:880) will provide an idea of the somatic mutational landscape in these patient samples. Individual patient muscle samples will also be sequenced as a reference. Illumina HiSeq 2000;ILLUMINA 55
EGAD00001003215 This data set contains whole exome sequences of individuals with self-stated parental relatedness from the East London Genes & Health cohort. Rare frequency functional variants in these healthy individuals will be studied with respect to the genetic health of the participants and loss-of-function analysis of human genes. Illumina HiSeq 2000;ILLUMINA, Illumina HiSeq 2500;ILLUMINA 1702
EGAD00010001212 Genetic studies of pregnancy-related cardiometabolic disorders in Central Asian, Northern European, and Colombian populations Illumina HumanOmniExpress-12v1_J 1207
EGAD00010001211 Inverse variance weighted fixed effect meta-analysis of three European GWAS studies of the offspring of Pre-eclampsia affected births (2658 Cases and 308267 Controls). 4
EGAD00001003260 The cell lines in this study are a combination of internally sequenced (cosmic) and externally sequenced cell lines known to be “double-wild-type� (lacking BRAF and NRAS somatic mutations). These sequences were realigned in this data set for consistency. 22
EGAD00010001216 Melanoma cell lines CNV by SNP6 SNP6 22
EGAD00001003295 Integrated callset of high coverage Egyptian genomes from the Pagani et al. 2015 AJHG paper (doi: http://dx.doi.org/10.1016/j.ajhg.2015.04.019) 3
EGAD00001003329 The offspring of first cousin marriages have ~6% of their genome autozygous, i.e. homozygous identical by descent, or even more if there was further consanguinity in their ancestry. In the UK there are large populations with very high first cousin marriage rates of 20-50%. Sequencing the exomes of a sample of these individuals has the potential both to support genetic health programmes in these populations, and to provide genetic research information about rare loss of function mutations. This pilot study based on existing cohort samples from the Born In Bradford study will identify homozygous individuals for almost all variants down to an allele frequency around 1%, plus individuals carrying hundreds of new homozygous rare loss-of-function variants, and will support development of community relations and ethics for a wider study currently being designed. The data deposited in the EGA consist of low coverage whole exome sequencing on these samples. This dataset contains all the data available for this study on 2017-05-11. Illumina HiSeq 2000;ILLUMINA, Illumina HiSeq 2500;ILLUMINA 3188
EGAD00010001223 Illumina Omni 2.5M SNPchip data (build37) of Egyptian samples from the Pagani et al. 2015 AJHG paper (doi: http://dx.doi.org/10.1016/j. ajhg.2015.04.019) Illumina HumanOmni2-5M-8v1-1_B 100
EGAD00010001221 Illumina Omni 2.5M SNPchip data (build37) of Ethiopian samples from the Pagani et al. 2015 AJHG paper (doi: http://dx.doi.org/10.1016/j. ajhg.2015.04.019) Illumina HumanOmni2-5_8v1_A 124
EGAD00001003308 This is an in vitro genome-wide CRISPR/cas9 screen in human glioblastoma stem cells, screening for genes essential for survival of these cells. These cells express cas9 and have been transfected with a guide RNA library causing gene knockouts. We will analyse the sequencing data for depletion of guide RNAs. This dataset contains all the data available for this study on 2017-04-27. Illumina HiSeq 2000;ILLUMINA 10
EGAD00001003307 In this project we will use exome sequencing to identify somatic mutations in lesions from a patient with a germline mutation in the protection of telomeres 1 gene (POT1). This dataset contains all the data available for this study on 2017-04-27. Illumina MiSeq;ILLUMINA, Illumina HiSeq 2000;ILLUMINA 40
EGAD00001003296 Integrated callset of low coverage Ethiopian and Egyptian genomes from the Pagani et al. 2015 AJHG paper (doi: http://dx.doi.org/10.1016/j.ajhg.2015.04.019) 220
EGAD00001003145 Sensory neurons are nerve cells that are activated by sensory input such as heat, light and convey information to the brain. Although a key cell type in complex organisms, human sensory neurons are challenging to study because they are impossible to obtain from living donors. We have collaborated with the Neucentis Pharmaceutical Research Unit to differentiate sensory neuron like cells from human induced pluripotent stem cells derived as part of the Human Induced Pluripotent Stem Cells Initiative. We will sequence RNA from 100 IPS lines derived from healthy individuals and perform RNA-seq on the differentiated cells to identify noncoding variants that alter gene expression in human sensory neurons. Illumina MiSeq;ILLUMINA, Illumina HiSeq 2000;ILLUMINA 123
EGAD00001000195 For information about this sample set, please contact the sample custodian Nic Timpson: N.J.Timpson@bristol.ac.uk Illumina HiSeq 2000; 740
EGAD00001003331 Whole-exome sequencing of a cohort of families (probands and affected/unaffected relatives) suffering from one of two rare thyroid disorders: congenital hypothyroidism (CH) and resistance to thyroid hormone (RTH). This dataset contains all the data available for this study on 2017-05-11. Illumina HiSeq 2000;ILLUMINA, Illumina HiSeq 2500;ILLUMINA 78
EGAD00001001374 The mtDNA and Y chromosome of up to 15 Australian Aborigines, concentrating on individuals with indigenous lineages will be sequenced using the standard whole-genome sequencing followed by filtering out autosomal and X sequences, so that only mtDNA and the Y chromosome would be analysed and released. Illumina HiSeq 2500; 6
EGAD00001003354 From 9 patients undergoing hip joint replacement surgery for osteoarthritis, we collected 3 cartilage samples each: a low-grade sample (no obvious evidence of damage or fibrillation); a high-grade sample (damaged and fibrillated cartilage); an osteophytic sample (overlaid bony protrusions mainly around the margins of the articular surface). Multiplexed libraries were sequenced on Illumina HiSeq 2000 (75bp paired-end read length) and a cram file was produced for each sample. This dataset contains all the data available for this study on 2017-06-09. Illumina HiSeq 2500;ILLUMINA 27
EGAD00001003355 From 17 patients undergoing knee joint replacement surgery for osteoarthritis, we collected 4 samples each: intact cartilage, degraded cartilage, synovium, and meniscus. We also collected blood for DNA analysis. Multiplexed libraries were sequenced on Illumina HiSeq 2000 (75bp paired-end read length) and a cram file was produced for each sample. This dataset contains all the data available for this study on 2017-06-09. Illumina HiSeq 2500;ILLUMINA 72
EGAD00001001422 HipSci - Bardet-Biedl Syndrome - Exome Sequencing - April 2015 Illumina HiSeq 2000;ILLUMINA 3
EGAD00001003407 Whole-genome sequencing and phasing of admixed Aboriginal Australian genomes and Papua New Guinean genomes using 10x Genomics Chromium technology. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute please see http://www.sanger.ac.uk/datasharing/ This dataset contains all the data available for this study on 2017-06-27. HiSeq X Ten;ILLUMINA 4
EGAD00010001285 Genotyping of knee osteoarthritis patients who have undergone total joint replacement Illumina InfiniumCoreExome-24v1-1_A 17
EGAD00010001287 Array methylation profiling of knee osteoarthritis patients who have undergone total joint replacement Illumina HumanMethylation450K 68
EGAD00010001289 Resolving the Genetic Architecture of Aseptic Loosening After Total Hip Replacement Illumina InfiniumCoreExome-24v1-1_A 2880
EGAD00010001292 Genotyping of hip osteoarthritis patients who have undergone total joint replacement Illumina InfiniumCoreExome-24v1-1_A 9
EGAD00010001291 Methylation profiling of hip osteoarthritis patients who have undergone total joint replacement Illumina HumanMethylation450K 27
EGAD00001003516 HipSci - Monogenic Diabetes - Exome Sequencing - July 2017 Illumina HiSeq 2500 (ILLUMINA) 43
EGAD00010001340 HipSci - Bardet-Biedl Syndrome - Expression Array - July 2017 Illumina 1
EGAD00010001344 HipSci - Hereditary Cerebellar Ataxias - Genotyping Array - July 2017 Illumina 1
EGAD00010001342 HipSci - Monogenic Diabetes - Expression Array - July 2017 Illumina 1
EGAD00001003596 The MITOEXME project aims to improve protocols for molecular diagnosis of patients with OXPHOS disorders with a focus on a next generation sequencing methods and to increase the knowledge of pahtophysiological mechanisms by identification of new targets and cellular studies. In this project we will sequence the exomes fo 120 patients. This dataset contains all the data available for this study on 2017-08-29. Illumina HiSeq 2000;ILLUMINA 125
EGAD00001000401 Population based sequencing of whole genomes of Crohn's disease patients. Illumina HiSeq 2000 (ILLUMINA) 2926
EGAD00010001328 HipSci - Healthy Normals - Genotyping Array - July 2017 Illumina 0
EGAD00010001334 HipSci - Monogenic Diabetes - Genotyping Array - July 2017 Illumina 1
EGAD00001003747 Optimisation of ex vivo Memory B cell Expansion/Differentiation for Interrogation of Rare Peripheral Memory B Cell Subset Responses 1) This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute please see http://www.sanger.ac.uk/datasharing/ This dataset contains all the data available for this study on 2017-09-13. Illumina MiSeq;ILLUMINA 38
EGAD00001003748 Sequencing of B-cell receptor repertoires in healthy individuals and patients with chronic lymphocytic leukemia. 1) This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute please see http://www.sanger.ac.uk/datasharing/ This dataset contains all the data available for this study on 2017-09-13. Illumina MiSeq;ILLUMINA 387
EGAD00001003517 HipSci - Alport Syndrome - Exome Sequencing - July 2017 Illumina HiSeq 2500 (ILLUMINA) 7
EGAD00001003518 HipSci - Battens Disease - Exome Sequencing - July 2017 Illumina HiSeq 2500 (ILLUMINA) 4
EGAD00001003519 HipSci - Bleeding and Platelet Disorders - Exome Sequencing - July 2017 Illumina HiSeq 2500 (ILLUMINA) 7
EGAD00001003520 HipSci - Congenital Hyperinsulinia - Exome Sequencing - July 2017 Illumina HiSeq 2500 (ILLUMINA) 5
EGAD00001003521 HipSci - Hereditary Cerebellar Ataxias - Exome Sequencing - July 2017 Illumina HiSeq 2500 (ILLUMINA) 11
EGAD00001003522 HipSci - Hereditary Spastic Paraplegia - Exome Sequencing - July 2017 Illumina HiSeq 2500 (ILLUMINA) 6
EGAD00001003523 HipSci - Hypertrophic Cardiomyopathy - Exome Sequencing - July 2017 Illumina HiSeq 2500 (ILLUMINA), Illumina HiSeq 2500;ILLUMINA 18
EGAD00001003525 HipSci - Macular Dystrophy - Exome Sequencing - July 2017 Illumina HiSeq 2500 (ILLUMINA) 3
EGAD00001003524 HipSci - Kabuki Syndrome - Exome Sequencing - July 2017 Illumina HiSeq 2500 (ILLUMINA) 6
EGAD00001003526 HipSci - Primary Immune Deficiency - Exome Sequencing - July 2017 Illumina HiSeq 2500 (ILLUMINA) 8
EGAD00001003527 HipSci - Retinitis Pigmentosa - Exome Sequencing - July 2017 Illumina HiSeq 2500 (ILLUMINA) 2
EGAD00001003528 HipSci - Usher Syndrome - Exome Sequencing - July 2017 Illumina HiSeq 2500 (ILLUMINA), Illumina HiSeq 2500;ILLUMINA 27
EGAD00001003529 HipSci - Healthy Normals - RNA Sequencing - July 2017 Illumina HiSeq 2500 (ILLUMINA) 193
EGAD00001003530 HipSci - Monogenic Diabetes - RNA Sequencing - July 2017 Illumina HiSeq 2500 (ILLUMINA) 43
EGAD00001003531 HipSci - Bardet-Biedl Syndrome - RNA Sequencing - July 2017 Illumina HiSeq 2500 (ILLUMINA) 59
EGAD00001003532 HipSci - Alport Syndrome - RNA Sequencing - July 2017 Illumina HiSeq 2500 (ILLUMINA) 7
EGAD00001003534 HipSci - Congenital Hyperinsulinia - RNA Sequencing - July 2017 Illumina HiSeq 2500 (ILLUMINA) 5
EGAD00001003535 HipSci - Kabuki Syndrome - RNA Sequencing - July 2017 Illumina HiSeq 2500 (ILLUMINA) 6
EGAD00001003536 HipSci - Primary Immune Deficiency - RNA Sequencing - July 2017 Illumina HiSeq 2500 (ILLUMINA) 8
EGAD00001003537 HipSci - Hereditary Spastic Paraplegia - RNA Sequencing - July 2017 Illumina HiSeq 2500 (ILLUMINA) 6
EGAD00001003538 HipSci - Hereditary Cerebellar Ataxias - RNA Sequencing - July 2017 Illumina HiSeq 2500 (ILLUMINA) 11
EGAD00001003539 HipSci - Bleeding and Platelet Disorders - RNA Sequencing - July 2017 Illumina HiSeq 2500 (ILLUMINA) 7
EGAD00001003540 HipSci - Hypertrophic Cardiomyopathy - RNA Sequencing - July 2017 Illumina HiSeq 2500 (ILLUMINA) 18
EGAD00001003541 HipSci - Macular Dystrophy - RNA Sequencing - July 2017 Illumina HiSeq 2500 (ILLUMINA) 3
EGAD00001003542 HipSci - Retinitis Pigmentosa - RNA Sequencing - July 2017 Illumina HiSeq 2500 (ILLUMINA) 2
EGAD00001003543 HipSci - Usher Syndrome - RNA Sequencing - July 2017 Illumina HiSeq 2500 (ILLUMINA) 27
EGAD00001003556 We will perform RNAseq to evaluate the effects of the loss of a list of TSGs on the transcriptome. This dataset contains all the data available for this study on 2017-08-10. Illumina HiSeq 2500;ILLUMINA 25
EGAD00001003564 The aim of the project is the definition of the molecular defect in a cohort of Rett-like patients negative for mutations in known disease genes. To this aim, a number of unrelated trios (patients plus parents) will be analysed by exome sequencing. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ This dataset contains all the data available for this study on 2017-08-16. Illumina HiSeq 2500;ILLUMINA 46
EGAD00001003565 The project is focused on the axonal forms of Charcot-Marie-Tooth (CMT) disease. We have selected 13 families (7 from Spain and 6 from Czech Republic) that have been indepth clinically assessed and previously tested for mutations in known CMT genes without causal variants characterised. In these patients we expect to discover several CMT2 genes. Thus, we requested for exome sequencing of 45 DNAs:27 exomes in families from Spain and 18 exomes in the families from Czech Republic. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ This dataset contains all the data available for this study on 2017-08-16. Illumina HiSeq 2500;ILLUMINA 45
EGAD00010001326 Papuan Genotyping Illumina Multi-EthnicGlobal_A1 380
EGAD00010001346 HipSci - Hereditary Spastic Paraplegia - Genotyping Array - July 2017 Illumina 1
EGAD00010001348 HipSci - Kabuki Syndrome - Genotyping Array - July 2017 Illumina 1
EGAD00010001350 HipSci - Usher Syndrome - Genotyping Array - July 2017 Illumina 1
EGAD00010001352 HipSci - Alport Syndrome - Genotyping Array - July 2017 Illumina 1
EGAD00010001354 HipSci - Congenital Hyperinsulinia - Genotyping Array - July 2017 Illumina 1
EGAD00010001360 HipSci - Bleeding and Platelet Disorders - Genotyping Array - July 2017 Illumina 1
EGAD00010001362 HipSci - Macular Dystrophy - Genotyping Array - July 2017 Illumina 1
EGAD00010001364 HipSci - Retinitis Pigmentosa - Genotyping Array - July 2017 Illumina 1
EGAD00010001366 HipSci - Battens Disease - Genotyping Array - July 2017 Illumina 1
EGAD00010001368 HipSci - Hereditary Cerebellar Ataxias - Expression Array - July 2017 Illumina 1
EGAD00010001370 HipSci - Hereditary Spastic Paraplegia - Expression Array - July 2017 Illumina 1
EGAD00010001372 HipSci - Kabuki Syndrome - Expression Array - July 2017 Illumina 1
EGAD00010001376 HipSci - Alport Syndrome - Expression Array - July 2017 Illumina 1
EGAD00010001378 HipSci - Congenital Hyperinsulinia - Expression Array - July 2017 Illumina 1
EGAD00010001380 HipSci - Hypertrophic Cardiomyopathy - Expression Array - July 2017 Illumina 1
EGAD00010001382 HipSci - Primary Immune Deficiency - Expression Array - July 2017 Illumina 1
EGAD00010001384 HipSci - Bleeding and Platelet Disorders - Expression Array - July 2017 Illumina 1
EGAD00010001386 HipSci - Macular Dystrophy - Expression Array - July 2017 Illumina 1
EGAD00010001388 HipSci - Retinitis Pigmentosa - Expression Array - July 2017 Illumina 1
EGAD00010001390 HipSci - Battens Disease - Expression Array - July 2017 Illumina 1
EGAD00010001356 HipSci - Hypertrophic Cardiomyopathy - Genotyping Array - July 2017 Illumina 1
EGAD00010001358 HipSci - Primary Immune Deficiency - Genotyping Array - July 2017 Illumina 1
EGAD00010001374 HipSci - Usher Syndrome - Expression Array - July 2017 Illumina 1
EGAD00001003750 This is the first whole exome sequencing analysis of a primary meningeal melanocytic tumour (MMT) alongside the patients germline. Here we report the CRAM files from the tumour and germline. Illumina HiSeq 2500;ILLUMINA 2
EGAD00001003594 This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ This dataset contains all the data available for this study on 2017-08-29. Illumina HiSeq 2500;ILLUMINA, Illumina HiSeq 4000;ILLUMINA 391