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• A Comprehensive Genomic Study of Pediatric Malignancy

  Malignancy remains the leading cause of disease-related death in children. DNA sequencing studies have shown a paucity of actionable genomic alterations and a low mutation burden across pediatric cancers at diagnosis. We perform a comprehensive genomic and epigenomic analysis of pediatric tumor and normal tissues using next-generation sequencing to identify molecular fingerprints and targets for diagnosis, prognosis, and development of novel therapeutic methods. This study also represents one of the largest of its type to date and provides a rich genomic dataset for the pediatric cancer research community.

  Study phs001928

• Epigenetic profiling of primary human thymocyte subsets

  Dynamic changes of the DNA methylation (DNAmeth) landscape drive differentiation of mature T lymphocytes. However, the role of DNAmeth-mediated regulation in thymocyte development remains unclear. Thus, we generated genome-wide DNAmeth and transcriptomic profiles of eight defined, ex vivo isolated primary human thymocyte subsets, to assess the epigenetic remodling taking place during human thymic T cell development. The generated data may also serve as a reference for the analysis of T cell-based inborn errors of immunity or for quality control purposes of in vitro generated T cell populations.

  Study EGAS50000001106

• Comprehensive peripheral blood immunoprofiling reveals five immunotypes with immunotherapy response characteristics in cancer patients

  The lack of comprehensive diagnostics and consensus analytical models for evaluating the status of a patient’s immune system has hindered a wider adoption of immunoprofiling for treatment monitoring and response prediction in cancer patients. To address this unmet need, we developed an immunoprofiling platform that uses multiparameter flow cytometry and RNA-seq to characterize immune cell heterogeneity in the peripheral blood of healthy donors and patients with advanced cancers. Using unsupervised clustering, we identified five immunotypes with unique distributions of different cell types, and gene expression profiles.

  Study EGAS50000000286

• Molecular analysis of circulating tumour cells identifies distinct profiles in chemosensitive and chemorefractory patients with small cell lung cancer

  In a search for profiles that distinguish chemosensitive versus chemorefractory SCLC disease, we examined copy number aberrations (CNA) in circulating tumour cells (CTCs) from pre-treatment SCLC blood samples. A CNA classifier was generated from 88 CTCs isolated from 13 patients (training set) then verified in 18 additional patients (112 CTC samples) (testing set) and in six SCLC patient-derived CTC explants explant tumours. These data highlight the potential utility of CTCs for molecular profiling and stratification of SCLC patients in future clinical trials.

  Study EGAS00001001951

• Whole exome sequencing of advanced gastric cancer

  To define the cellular characteristics of malignant ascites of advanced gastric cancer patients and search for therapeutic strategies, we obtained 5 malignant ascites and 1 cerebrospinal fluid from five patients with gastric cancer. We analyzed 180 cells from 4 malignant ascites and 1 cerebrospinal fluid metastasis. The results indicate that the anti-inflammatory characteristics of the tumor associated macrophages are concocted by the tumor cells. By constructing reference transcriptomes for M1 and M2 type macrophages, we found a strong non-inflammatory property of macrophages recovered from the malignant ascites of gastric cancer.

  Study EGAS00001004086

• Myelodysplastic_syndrome_whole_genomes

  Wholegenome libraries will be prepared from at least two serial samples reflecting different stages of disease progression and matched constitutional DNA for 30 Myelodysplastic syndrome patient samples. Five lanes of Illumina HiSeq sequencing will be performed on each of the tumour samples and four lanes for each of the constitutional DNA. Sequencing data will mapped to build 37 of the human reference genome and analysis will be performed to characterize the spectrum of somatic variation present in these samples including single base pair mutations, insertions, deletions as well as larger structural variants and genomic rearrangements.

  Study EGAS00001000291

• Myeloproliferative_Disease_Whole_Genomes

  Wholegenome libraries will be prepared from at least two serial samples reflecting different stages of disease progression and matched constitutional DNA for 30 Myeloproliferative Disease samples. Five lanes of Illumina HiSeq sequencing will be performed on each of the tumour samples and four lanes for each of the constitutional DNA. Sequencing data will mapped to build 37 of the human reference genome and analysis will be performed to characterize the spectrum of somatic variation present in these samples including single base pair mutations, insertions, deletions as well as larger structural variants and genomic rearrangements.

  Study EGAS00001000290

• Biological insights from the whole genome sequences of human embryonic stem cell lines

  Human embryonic stem cells (hESCs) are a powerful tool for the study of human development and can form the basis of cellular disease models or therapies. However, the genetic make-up and stability of hESCs has not been systematically studied at a genome-wide level with single nucleotide resolution. We therefore sequenced the whole genome and whole exomes of widely available hESC. This online resource will enable investigators to access raw sequencing data in order to interrogate cell lines for different disease- and trait-associated genetic variants.

  Study EGAS00001002400

• Somatic mutation in edited cholangiocyte organoids

  Primary human cells cultured in organoid format have great promise as potential regenerative cellular therapies. However, their immunogenicity and mutagenic profile remain unresolved, impeding effective long-term translation to the clinic. In this study we report, for the first time, the generation of human leukocyte antigen (HLA)-I and HLA-II knock-out human expandable primary cholangiocyte organoids (PCOs) using CRISPR-Cas9 as a potential ‘universal’ low-immunogenic therapy for bile duct disorders. HLA-edited PCOs (ePCOs) displayed the same phenotypic and functional characteristics as parental unedited PCOs. Despite minimal off-target edits, duplex sequencing approaches demonstrated that ePCOs and PCOs acquire mutations in culture at similar rates, but without evident selection for cancer-driver mutations. ePCOs induced reduced T cell-mediated immunity and donor-dependent NK cell cytotoxicity in vitro and evaded cytotoxic responses with increased graft survival in humanized mice in vivo. Our findings have important implications for assessment of safety and immunogenicity of primary cell-derived organoid cellular therapies.

  Dataset EGAD00001015455

• Somatic mutation in edited cholangiocyte organoids

  Primary human cells cultured in organoid format have great promise as potential regenerative cellular therapies. However, their immunogenicity and mutagenic profile remain unresolved, impeding effective long-term translation to the clinic. In this study we report, for the first time, the generation of human leukocyte antigen (HLA)-I and HLA-II knock-out human expandable primary cholangiocyte organoids (PCOs) using CRISPR-Cas9 as a potential ‘universal’ low-immunogenic therapy for bile duct disorders. HLA-edited PCOs (ePCOs) displayed the same phenotypic and functional characteristics as parental unedited PCOs. Despite minimal off-target edits, duplex sequencing approaches demonstrated that ePCOs and PCOs acquire mutations in culture at similar rates, but without evident selection for cancer-driver mutations. ePCOs induced reduced T cell-mediated immunity and donor-dependent NK cell cytotoxicity in vitro and evaded cytotoxic responses with increased graft survival in humanized mice in vivo. Our findings have important implications for assessment of safety and immunogenicity of primary cell-derived organoid cellular therapies.

  Dataset EGAD00001015457

• Somatic mutation in edited cholangiocyte organoids

  Primary human cells cultured in organoid format have great promise as potential regenerative cellular therapies. However, their immunogenicity and mutagenic profile remain unresolved, impeding effective long-term translation to the clinic. In this study we report, for the first time, the generation of human leukocyte antigen (HLA)-I and HLA-II knock-out human expandable primary cholangiocyte organoids (PCOs) using CRISPR-Cas9 as a potential ‘universal’ low-immunogenic therapy for bile duct disorders. HLA-edited PCOs (ePCOs) displayed the same phenotypic and functional characteristics as parental unedited PCOs. Despite minimal off-target edits, duplex sequencing approaches demonstrated that ePCOs and PCOs acquire mutations in culture at similar rates, but without evident selection for cancer-driver mutations. ePCOs induced reduced T cell-mediated immunity and donor-dependent NK cell cytotoxicity in vitro and evaded cytotoxic responses with increased graft survival in humanized mice in vivo. Our findings have important implications for assessment of safety and immunogenicity of primary cell-derived organoid cellular therapies.

  Dataset EGAD00001015456

• DAC for CancerLocator study

  Dac EGAC00001000602

• Point of contact for Data

  Dac EGAC00001000977

• DAC for CAR-T

  Dac EGAC00001003069

• DAC for PROP1 study

  Dac EGAC00001000312

• DAC for ACC Study

  Dac EGAC00001000376

• Centre for Biocultural History

  Dac EGAC00001000502

• DAC for SCHoming study group

  Dac EGAC00001000667

• DAC for Pitteloud group

  Dac EGAC00001000690

• DAC for CancerDetector study

  Dac EGAC00001000979

• DAC for cirrhosis data

  Dac EGAC00001001137

• DAC for HIFI data

  Dac EGAC00001001142

• DAC for Hodson's Lab

  Dac EGAC00001001298

• DAC for Levy Group

  Dac EGAC00001001450

• Center for Medical Genetics

  Dac EGAC00001001466

• DAC for Pediatric GBM

  Dac EGAC00001001621

• DAC for TG data

  Dac EGAC00001002263

• OPTIMISTIC DAC for ReCognitION

  Dac EGAC00001002434

• DAC for cfTrack study

  Dac EGAC00001002472

• DAC for hiPSC-derived neurons

  Dac EGAC00001002797

• DAC for study EGAS00001007291

  Dac EGAC00001003261

• Genomewide Association Study of Inflammatory Bowel Disease

  WTCCC genome-wide case-control association study for Inflammatory Bowel Disease (IBD) using the 1958 British Birth Cohort and the UK National Blood Service collections as controls.

  Study EGAS00000000006

• 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

  Dataset EGAD00010000766

• RNA-Seq data of S24 cells for the publication Recording physiological history of cells with chemical labeling.

  Recordings of elevated calcium levels allowed selections of cells from heterogenous populations for transcriptomic analysis. Paired RNA-Seq from S24 cells using Takara SMARTer Ultra Low Input RNA v4 kit and sequencing on a Illumina NovaSeq 6000.

  Dataset EGAD50000000082

• Tumor heterogeneity and immune-evasive microenvironment in T follicular helper cell lymphomas

  Single-cell analysis data for tumor and immune cells from lymph node and peripheral blood samples of 14 patients with T follicular helper cell lymphomas

  Study EGAS50000000275

• ERa ChIP-seq in breast healthy, primary cancer and metastatic tissues

  ChIP-seq has been perfomed on fresh-frozen tissue derived from healthy breast (HB), primary breast cancer (PB), BCa-derived liver metastasis (LM). Immunoprecipitation has been performed for ERa (sc-542, SantaCruz). Raw paired-end fastq.gz files are provided for both immunoprecipitated DNA and input samples.

  Dataset EGAD50000000642

• Saliva Microbiota of Finnish children from the PANIC study

  Saliva Microbiota of Finnish children aged between 6-8 yrs in the PANIC study. Baseline data. Studied for various lifestyle conditions and oral diseases (without caries/with caries).

  Study EGAS50000000708

• Immunophenotype data for a subset of NSCLC cases in OAK

  The investigators would like to correlate NGS data from OAK to immunophenotype designation performed manually based on a panCK/CD8 immunohistochemistry stain for a subset of squamous cell carcinomas.

  Dataset EGAD50000001253

• Liquid biopsy-based minimal residual disease monitoring for early risk stratification and decision-making in advanced non-small cell lung cancer - DEDICATION co-hort

  Liquid biopsies generated for minimal residual disease monitoring of non-small cell lung cancer. Ultra deep targeted sequencing of lung cancer related genes with UMIs. This dataset contains the dedication cohort

  Dataset EGAD50000002230

• Liquid biopsy-based minimal residual disease monitoring for early risk stratification and decision-making in advanced non-small cell lung cancer - Biobank co-hort

  Liquid biopsies generated for minimal residual disease monitoring of advanced non-small cell lung cancer. Ultra deep targeted sequencing of lung cancer specific genes, with UMIs. This dataset consists of the biobank cohort

  Dataset EGAD50000002231

• Chromatin_Profiling_in_Twins

  50 lymphoblastoid cell lines of adult female Twins which are part of the MuTHER study, subjected to Chromatin Immunoprecipitation using an antibody for H3K4me1. H3K4me1 peaks mark distal regulatory elements.

  Study EGAS00001000098

• Colon adenomas and adenocarcinomas and matched mucosae

  Whole exome sequencing in sporadic colorectal cancers (CRC) and advanced adenomas (Ad-As), and their paired healthy mucosa, for a deeper understanding of the biology of this cancer.

  Study EGAS00001007255

• S_CORT_Stratification_in_COloRecTal_cancer_

  Colorectal cancer samples will be submitted for Illumina sequencing using a custom capture of 116 genes implicated in colorectal tumourigenesis. Driver mutations will be detected and ultimately correlated with phenotypic data.

  Study EGAS00001001521

• Myeloma_Targeted_Follow_up_Study

  390 samples, perform WGA, and send the WGA’d DNA to core for pre-capture library and tagging, pulldown with ELID 631172 (16 samples per reaction tube), and sequencing (24 samples per lane)

  Study EGAS00001000880

• Organoid_Derivation_Pilot__RNAseq

  Generation of normal and cancer organoids for sequencing as part of the WTSI-CRUK international collaboration with NCI (in HCMI) to generate the next generation of cancer cell lines.

  Study EGAS00001002223

• BIG_MS_Pilot

  Testing logistics and infrastructure of molecular screening program. Core biopsies taken from invasive recurrent or metastatic breast cancer to evaluate and identify molecular traits rendering them suitable for clinical trials

  Study EGAS00001000616

• SureTypeSC - accurate genotyping of single-cell SNP array data

  We used a collection of single cells from two Coriell cell lines to train and validate a machine learning method for quality assessment of the single cell genotypes

  Study EGAS00001004621

• Organoid_Derivation_Project__WGS

  Generation of normal and cancer organoids for sequencing as part of the WTSI-CRUK international collaboration with NCI (in HCMI) to generate the next generation of cancer cell lines

  Study EGAS00001002222

• Targeted_NanoSeq_Sperm

  Targeted NanoSeq in sperm samples provided by healthy patients. A custom-designed panel of ~200 genes will be used to achieve high depth coverage (aiming for ~1000X at panel sites).

  Study EGAS00001005920

• A96190A

  Whole genome sequencing for single cells for library A96190A 1833 cells; filetype=bam

  Dataset EGAD00001007620

• Islet RFX6 Study Manuscript Data

  This submission includes raw FASTQ files (for bulk RNA-seq and 10X joint snATAC+snRNA multiome profiling experiments), sample phenotype files, and genotypes for the data included in the manuscript.

  Dataset EGAD00001008777

• A96145A

  Whole genome sequencing for single cells for library A96145A 642 samples; filetype=bam

  Dataset EGAD00001008232

• A96193B

  Whole genome sequencing for single cells for library A96193B 2410 cells; filetype=bam

  Dataset EGAD00001007118

• SCLC CTC genomic analysis data set

  The data set consists of low-pass whole genome sequence data of single CTCs, pools of CTCs and germline controls for a cohort of 31 SCLC patients at both baseline, and for 5 patients at relapse. In addition 9 CDX models and associated germline controls (where available) are included.

  Dataset EGAD00001002678

• Single Cell Genome Sequence for DLP+ library A118368B

  Single Cell Genome Sequence for triple negative breast cancer patient-derived xenograft SA605 passage 3 on DLP+ library A118368B

  Dataset EGAD00001009432

• Single Cell Genome Sequence for DLP+ library A118797B

  Single Cell Genome Sequence for high grade serous ovarian carcinoma patient-derived xenograft SA1184D passage 1 on DLP+ library A118797B

  Dataset EGAD00001009438

• Single Cell Genome Sequence for DLP+ library A108847B

  Single Cell Genome Sequence for high grade serous ovarian carcinoma patient-derived xenograft SA1182E passage 1 on DLP+ library A108847B

  Dataset EGAD00001009429

• A95623A

  Whole genome sequencing for single cells for library A95623A 1897 cells; filetype=bam

  Dataset EGAD00001007607

• Single Cell Genome Sequence for DLP+ library A118784A

  Single Cell Genome Sequence for high grade serous ovarian carcinoma patient-derived xenograft SA1050B passage 1, patient-derived xenograft SA1050E passage 1 on DLP+ library A118784A

  Dataset EGAD00001009436

• Single Cell Genome Sequence for DLP+ library A118808B

  Single Cell Genome Sequence for high grade serous ovarian carcinoma patient-derived xenograft SA1096C passage 1 on DLP+ library A118808B

  Dataset EGAD00001009441

• Single Cell Genome Sequence for DLP+ library A118357B

  Single Cell Genome Sequence for Immortalized breast epithelium BRCA2+/- Tp53-/- cell line 184-hTert L9 116.66 cell line SA1188 on DLP+ library A118357B

  Dataset EGAD00001009431

• CBD-KEY-CITESEQ-LINKER: Linker file for CITEseq sequencing data

  Linker file for COMBAT CITEseq sequencing data. Links COMBAT sample IDs with sequencing pools and their associated raw sequence data. Sequence data can be found in the following datasets: ADT data: EGAD00001007962 GEX data: EGAD00001008007 VDJ (B-cell): EGAD00001007964 VDJ (T-cell): EGAD00001007965

  Dataset EGAD00001008008

• Single Cell Genome Sequence for DLP+ library A96171A

  Single Cell Genome Sequence for triple negative breast cancer patient-derived xenograft SA501 passage 2, patient-derived xenograft SA611 passage 3 on DLP+ library A96171A

  Dataset EGAD00001009458

• DigiPico sequencing data for the study of active mutational processes in HGSOC

  The dataset contains Bam files from DigiPico runs as well as bulk sequencing data used in the "A highly accurate platform for clone-specific mutation discovery enables the study of active mutational processes" publication.

  Dataset EGAD00001005118

• Low Pass Whole Genome Sequencing of Cell Free DNA from Patients Receiving CD19 CAR T-Cell Therapy for Large B-Cell Lymphoma

  Low Pass Whole Genome Sequencing of Cell Free DNA from Patients Receiving CD19 CAR T-Cell Therapy for Large B-Cell Lymphoma consisting of 123 samples with FASTQs with hg19 aligned BAM/BAI files.

  Dataset EGAD00001009175

• Single Cell Genome Sequence for DLP+ library A96228A

  Single Cell Genome Sequence for Immortalized lymphoblastoid cell line GM18507 cell line SA928,Triple negative breast cancer patient-derived xenograft SA609 passage 2 patient-derived xenograft SA609 passage 2 on DLP+ library A96228A

  Dataset EGAD00001009645

• Single Cell Genome Sequence for DLP+ library A118425B

  Single Cell Genome Sequence for Immortalized breast epithelium BRCA2+/- Tp53-/- cell line 184-hTert L9 116.66 cell line SA1188 on DLP+ library A118425B

  Dataset EGAD00001009434

• Single Cell Genome Sequence for DLP+ library A118814B

  Single Cell Genome Sequence for high grade serous ovarian carcinoma patient-derived xenograft SA1162B passage 1 on DLP+ library A118814B

  Dataset EGAD00001009443

• Single Cell Genome Sequence for DLP+ library A118790A

  Single Cell Genome Sequence for triple negative breast cancer patient-derived xenograft SA610 passage 3, patient-derived xenograft SA1096C passage 1 on DLP+ library A118790A

  Dataset EGAD00001009437

• A73044B

  Whole genome sequencing for single cells for library A73044B 2085 cells; filetype=bam

  Dataset EGAD00001007101

• RNAseq of liver harvested from CDAHFD mice treated for 8 weeks with either the MGAT2 inhibitor compound BMS-963272 or vehicle

  This experiment consists of RNAseq of liver harvested from CDAHFD mice treated for 8 weeks with either the MGAT2 inhibitor compound BMS-963272 (N = 10) or with vehicle (N = 10).

  Dataset EGAD00001009389

• Single Cell Genome Sequence for DLP+ library A118804A

  Single Cell Genome Sequence for high grade serous ovarian carcinoma patient-derived xenograft SA1162B passage 1, patient-derived xenograft SA1096B passage 1 on DLP+ library A118804A

  Dataset EGAD00001009439

• BLUEPRINT release August 2016, DNase-Hypersensitivity for macrophage - T=6days untreated, on genome GRCh38

  DNase-Hypersensitivity data for 4 macrophage - T=6days untreated sample(s). 6 run(s), 4 experiment(s), 4 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_dnaseseq_analysis_20160816

  Dataset EGAD00001002398

• RNA-Seq data for paper titled 'Genomic Landscape of Pediatric Myelodysplastic Syndromes'

  When available (25 primary MDS, 12 MDS/MPN, and 6 AML-MRC cases), high quality RNA (stranded-total) was submitted for RNA-seq. RNA was extracted from bulk myeloid cells which was used as the tumor population. Files uploaded are mapped BAM files.

  Dataset EGAD00001003782

• BLUEPRINT: ChIP-seq for monocytes & neutrophils

  ChIP-seq for monocytes and neutrophils

  Dataset EGAD00001000676

• BLUEPRINT release August 2016, DNase-Hypersensitivity for Chronic Lymphocytic Leukemia, on genome GRCh38

  DNase-Hypersensitivity data for 2 Chronic Lymphocytic Leukemia sample(s). 2 run(s), 2 experiment(s), 2 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_dnaseseq_analysis_20160816

  Dataset EGAD00001002459

• BLUEPRINT release August 2015, DNase-Hypersensitivity for Acute Myeloid Leukemia, on genome GRCh38

  DNase-Hypersensitivity data for 1 Acute Myeloid Leukemia sample(s). 1 run(s), 1 experiment(s), 1 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_dnaseseq_analysis_20150820

  Dataset EGAD00001001549

• BLUEPRINT release August 2015, RNA-Seq for Multiple myeloma, on genome GRCh38

  RNA-Seq data for 11 Multiple myeloma sample(s). 11 run(s), 11 experiment(s), 11 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_analysis_crg_20150820

  Dataset EGAD00001001471

• BLUEPRINT release August 2016, DNase-Hypersensitivity for Acute Myeloid Leukemia, on genome GRCh38

  DNase-Hypersensitivity data for 37 Acute Myeloid Leukemia sample(s). 38 run(s), 37 experiment(s), 37 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_dnaseseq_analysis_20160816

  Dataset EGAD00001002355

• BLUEPRINT release August 2016, DNase-Hypersensitivity for monocyte - T=0days, on genome GRCh38

  DNase-Hypersensitivity data for 2 monocyte - T=0days sample(s). 4 run(s), 2 experiment(s), 2 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_dnaseseq_analysis_20160816

  Dataset EGAD00001002300

• Genomic (WGS) data for the validation of the glioblastoma progression study (GBMatch).

  43 low-coverage genomes derived from fresh-frozen glioblastoma tumor samples. These genomes have been produced for validation purposes and match the corresponding RRBS and RNA-seq profiles in that DNA and RNA was extracted from the same tumor samples.

  Dataset EGAD00001004077

• Transcriptome (RNA-seq) data for the validation of the glioblastoma progression study (GBMatch).

  37 transcriptomes derived from fresh-frozen glioblastoma tumor samples. These transcriptomes have been produced for validation purposes and match the corresponding RRBS and WGS profiles in that DNA and RNA was extracted from the same tumor samples.

  Dataset EGAD00001004076

• BLUEPRINT: RNA-seq for monocytes and neutrophils

  RNA-seq for monocytes and neutrophils

  Dataset EGAD00001000675

• Exome sequencing data for medulloblastoma samples

  Exome sequencing data for medulloblastoma tumor/control pairs

  Dataset EGAD00001003128

• Next generation sequencing of liver cancer cell lines

  Whole genome sequencing was performed for 81 liver cancer cell lines. Additional whole exome sequencing was performed for a subset of 11 liver cancer cell lines. SK_HEP_1 was also provided, though considered not hepatic origin. These sequencing data provided the detailed genomic characterization of liver cancer models.

  Dataset EGAD00001003165

• BLUEPRINT release August 2015, RNA-Seq for monocyte, on genome GRCh38

  RNA-Seq data for 4 monocyte sample(s). 4 run(s), 4 experiment(s), 4 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_analysis_crg_20150820

  Dataset EGAD00001001572

• BLUEPRINT release January 2015, DNase-Hypersensitivity for inflammatory macrophage

  DNase-Hypersensitivity data for 2 inflammatory macrophage sample(s). 2 run(s), 2 experiment(s), 2 alignment(s). Part of BLUEPRINT release January 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_dnaseseq_analysis_20140811

  Dataset EGAD00001001193

• Sequencing data for oesophageal and related samples - Alex Frankell et al (RNA)

  Data supporting: "The landscape of selection in 551 Esophageal Adenocarcinomas defines genomic biomarkers for the clinic." Frankell et al. RNAseq (BAM files) 116 tumours

  Dataset EGAD00001004423

• BLUEPRINT release August 2014, DNase-Hypersensitivity for inflammatory macrophage

  DNase-Hypersensitivity data for 2 inflammatory macrophage sample(s). 2 run(s), 2 experiment(s), 2 alignment(s). Part of BLUEPRINT release August 2014. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_dnaseseq_analysis_20140811

  Dataset EGAD00001000926

• Microinjection of hIPSC-derived intestinal organoids with Salmonella Typhimurium

  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/

  Dataset EGAD00001001363

• BLUEPRINT release August 2016, DNase-Hypersensitivity for macrophage - T=6days LPS, on genome GRCh38

  DNase-Hypersensitivity data for 4 macrophage - T=6days LPS sample(s). 6 run(s), 4 experiment(s), 4 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_dnaseseq_analysis_20160816

  Dataset EGAD00001002290

• Whole genome sequencing of single cells identifies stochastic aneuploidies, genome replication, states, and clonal repertoires for library for library A95728A

  Transposase-based amplification-free single-cell genome direct library preparation in nanowell chips; 844 samples; filetype=bam

  Dataset EGAD00001004758

• Single-Cell Data from "Spatiotemporal T-cell tracking for personalized T-cell receptor T-cell therapy designs in childhood cancer"

  This dataset contains the FASTQ files from the Single-Cell GEx+TCR 10X Genomics data from the study "Spatiotemporal T-cell tracking for personalized T-cell receptor T-cell therapy designs in childhood cancer" (EGAS00001008174)

  Dataset EGAD00001015632

• Khoe-San genome Project (KSGP)

  The Khoe-San Genome Project (KSGP) includes whole genome data generated for 190 study participants from Southern Africa (Namibia and South Africa) representing people speaking a Namibian Khoe-San language (n=150, 12 groups) or regional non-Khoe-San groups (n=40), specifically defined here as Namibian Himba (n=10), South African Southern Bantu (n=12 and representing the Ubuntu Genome Project led by the University of Limpopo) or South African Coloured/European (n=18). Deep whole genome data has been generated for the purposes of cataloguing the extent of regional genetic diversity, creating population specific references and evolutionary trajectories, while creating a population-matched panel of normal (PoN) genetic diversity required for disease associated studies across the region.

  Dac EGAC50000000798

• RNA-Seq and small RNA-Seq of tuberous sclerosis complex cortical tubers and age-matched controls.

  This dataset contains both standard RNA-Seq and small RNA-Seq of TSC related cortical tubers and age matched cortical controls. For the standard RNA-Seq paired-end sequencing was carried out. Each sample was split across multiple lanes. For the files available here the multiple lanes have been merged together, resulting in one forward and one reverse .fastq file for each sample. Small RNA-Seq was carried out on the same samples that underwent standard RNA-Seq. Again paired-end sequencing was carried out. The files here are raw and will need to be undergo quality control and trimming.

  Dataset EGAD00001003444

• ICR639 CPG NGS Validation series

  The dataset includes sequencing data generated using the TruSight Cancer Panel (TSCP) a targeted NGS assay for analysis of CPGs and orthogonally generated data supporting at least one pathogenic variant in a CPG for a total of 645 pathogenic CPG variants. The set of pathogenic CPG variants includes strong representation of some of the most challenging types of pathogenic variants, with 339 indels, including 16 complex indels and 24 insertions or deletions with length greater than 5bp, and 74 exon CNVs, including 23 single exon CNVs. There are 502 pathogenic variants in BRCA1 or BRCA2, making this an important first-line validation dataset for laboratories performing NGS testing of BRCA1 and BRCA2.

  Dataset EGAD00001004134

• Dichotomous regulation of lysosomes by MYC and TFEB controls hematopoietic stem cell fate

  We show that lysosomes are antagonistically controlled by TFEB and MYC to balance catabolic and anabolic processes required for activating LT-HSC and guiding their lineage fate. TFEB-mediated induction of the endolysosomal pathway for membrane receptor degradation limits LT-HSC metabolic and mitogenic activation; this promotes quiescence and self-renewal and governs erythroid-myeloid commitment. By contrast, MYC engages biosynthetic processes while repressing lysosomal catabolism to drive LT-HSC activation. Collectively, our study identifies lysosomes as a central regulatory hub for proper and coordinated stem cell fate determination.

  Dataset EGAD00001006884

• Causative Mutations for TAR DAC

  Dac EGAC00001000008

• Data Access Committee for TraIT

  Dac EGAC00001000212

• Data Committee for EMSEQ project

  Dac EGAC00001000265