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• A thymic ILC1-like progenitor with differentiation potential towards KIR+NKG2A- NK cells

  The dataset contains bulk RNA sequencing data from 12 pediatric thymus samples collected during cardiac surgeries. These samples represent immunologically healthy donors with a mean age of 6 months. The sequencing was performed using Illumina HiSeq4000, and the processed files are available in standard formats such as FASTQ.

  Dataset EGAD50000001120

• FFPE CRC sequence data and somatic variants

  We included 3 BAM files of the genome sequencing data: 2 of 3 are from tumour samples, namely 1 repaired-FFPE and 1 unrepaired FFPE; the third BAM file is from normal tissue of FFPE block. There is also a VCF file containing all somatic mutations in the dataset.

  Dataset EGAD00001007723

• CASCADE germline whole genome sequencing data

  High-coverage whole genome sequencing data (median coverage: 23.5X, range: 14.14X-32.62X)) from white blood cells of the patients from isolated buffy coat of the blood drawn postmortem from patients who participated in the CASCADE rapid autopsy program and died of metastatic castration resistant prostate cancer.

  Dataset EGAD00001009493

• RNA-seq data from hypothalamic tissue from individuals with Prader-Willi syndrome and age-matched controls.

  RNA-seq data (bam files) from the hypothalamus of 4 individuals with Prader-Willi syndrome and 4 age-matched control individuals. Detailed information about the study design, case-control matching and RNA-seq data processing is provided in the accompanying publication [Bochukova et al (2018) Cell Reports].

  Dataset EGAD00001004034

• Whole exome profiling of spatial biopsies of high grade serous epithelial ovarian cancer patients

  This data set is comprised of data from seven distinct high grade serous epithelial ovarian cancer (HGS-EOC) partients, from whom multiple biopsies were taken at the time of surgery, from the ovary and from different locations in the peritoneal cavity. This data set contains 28 samples, sequenced with a whole exome sequencing approach.

  Dataset EGAD00001004154

• Primary breast cancers and paired brain metastases

  Targeted next-generation-sequencing of 494 cancer-associated genes was done in a series of 14 frozen pairs of matched primary breast cancers and brain metastases (28 samples). DNA libraries of all coding exons were prepared using the Haloplex Target Enrichment System. Sequencing was done using the 2*150bp paired-end technology on the Illumina NextSeq500 platform.

  Dataset EGAD00001004309

• Chromosome Segregation Errors Promote a Diverse Spectrum of Simple and Complex Genomic Rearrangements

  Cancer genomes are frequently characterized by numerical and structural karyotypic abnormalities. Here we combined an inducible centromere-specific inactivation approach with selection for a conditionally essential gene, a strategy we term ‘CEN-SELECT’, and show that single-chromosome missegregation during cell division can directly drive a broad spectrum of structural rearrangement types. Cytogenetic profiling revealed that missegregated chromosomes are 120-fold more susceptible to developing seven major categories of structural variants, including translocations, insertions, deletions, and reassembly into chromothriptically rearranged chromosomes. Whole-genome sequencing of clones with genetically propagatable derivative chromosomes identified complex rearrangements and copy-number alterations that can result in gene inactivation or extrachromosomal gene amplification. We conclude that chromosome segregation errors are sufficient to drive extensive structural variation that recapitulates those commonly associated with human cancers.

  Dataset EGAD00001004163

• The Diabetes Heart Study (DHS)

  The Diabetes Heart Study is a family based study enriched for type 2 diabetes (T2D). The cohort included 1220 self-reported European Americans from 475 families (Bowden et al 2010 Review of Diabetic Studies 7:188-201: PMID: 21409311; Bowden et al 2008 Annals of Human Genetics 72:598-601 PMID: 18460048) and included siblings concordant for T2D; where possible unaffected siblings were also recruited. The cohort was recruited between 1998 and 2006. Participants were extensively phenotyped for measures of subclinical CVD and other known CVD risk factors. Primary outcomes were quantified burden of vascular calcified plaque in the coronary artery, carotid artery and abdominal aorta all determined from non-contrast computed tomography scans.

  Study phs001012

• Log2-CPM (voom)-normalised read-count matrix of the RNAseq Datasets of CLUSTER JIA pre-MTX cohort

  Samples were sequenced with NovaSeq6000 and the sequencing files were processed using the RSSnextflow workflow (https://gitlab.com/b8307038/rssnextflow). The raw read counts from all batches were combined. Analysis-ready batch-corrected read counts were generated using ComBat-seq. Read counts normalisation for DGE analysis was performed with limma-voom function (log2 CPM) as seen in the pipeline.

  Dataset EGAD50000002170

• Aligned FOS RNA sequencing data

  Total RNA-sequencing Paired-End was performed by GenomeScan (Leiden, the Netherlands) on the NovaSeq6000 platform for full-length FOS (FOS FL), truncated FOS (FOSΔ), a FOS isoform with an L376N mutation (FOS mut), untransduced fMSC (unt) and fMSC with empty pLV (pLV) at week 0, 1, 2, and 3 in triplicate (total of 60 samples). Raw RNA-seq data were processed by the RNA-seq BioWDL pipeline pipeline version 5.0.0 developed by the SASC team at LUMC, LUMC, Leiden, the Netherlands).

  Dataset EGAD50000001839

• Aligned reads in the 2kb region centered on the HTT repeat expansion from Illumina HiSeqX and HiSeq2000 whole genome sequence data

  This dataset includes bam files from 58 samples. These bam files include all read pairs where at least one of the reads aligns within 1kb of the HTT repeat expansion. These samples were sequenced using 2x150bp reads on an Illumina HiSeqX sequencer and aligned using bwa. Twelve of the samples used TruSeq Nano library preparation and 46 samples used TruSeq DNA PCR-free sample preparation.

  Dataset EGAD00001003512

• Genetic screening of GPI-anchor protein synthesis (2018-08-13)

  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/ . This dataset contains all the data available for this study on 2018-08-13.

  Dataset EGAD00001004294

• The mutational characterization of adenoid cystic carcinoma

  Adenoid cystic carcinoma (ACC) typically emanate from the major and minor salivary glands of the head and neck. ACCs have high rates of perineural invasion, locoregional recurrence, and distant metastasis. Here we report sequencing of 60 tumor/normal pairs and find substantial mutational diversity. On pathway analysis, a significant percentage of mutations involved chromatin remodeling, DNA damage, protein kinase A signaling, and FGF/IGF/PI3K signaling. Whole genome sequencing and FISH confirmed the MYB-NFIB translocation as the main structural variant in ACC. Evaluation of potential driver mutations KDM6A and PIK3CA reveal that specific, observed alterations impart functional consequences. Collectively, our data delineate the ACC mutational landscape and establish a molecular foundation for investigating new therapies for this disease.

  Study phs000612

• Germline genome sequencing samples from the Hereditary Cancer Syndromes (ICCon) Cancer Flagship

  A prospective study of individuals with suspicion of a hereditary cancer syndrome for whom previous clinical targeted genetic testing was either not informative or was not available. To identify pathogenic disease-causing variants explaining participant presentation, germline whole-genome sequencing and a comprehensive cancer virtual gene panel analysis were undertaken.

  Study EGAS00001007045

• Total RNA sequencing from the TNT trial (NCT00532727)

  Primary tumours from 186 TNT participants (13 matched recurrences) were profiled using total RNA-sequencing. Four transcriptional DDR-related and 25 immune-related signatures were evaluated. We assessed their association with objective-response-rate (ORR) and progression-free-survival (PFS) and performed conditional inference forest clustering to integrate multi-modal data.

  Study EGAS00001007398

• Oligodendroglia as functional effectors of Multiple Sclerosis risk variants (iPS derived hOPC scCRISPRi/a-seq)

  Study of the regulatory effect of a selection Multiple Sclerosis (MS) associated SNPs applying high-throughput functional genomics in human induced pluripotent stem cell-derived oligodendroglia (iPS-derived hOPCs). Selected cis-regulatory elements were assesed with lentiviral-based pooled single cell (sc)CRISPR-seq screens. CRISPRi/a (dCas9-KRAB and dCas9-p300 respectively) was performed, in combination with direct-capture Perturb-sequencing single-guide RNA (sgRNA) and droplet-based single-cell RNA-seq, allowing high sgRNA capture efficiency and identification of possible transcriptional regulatory mechanisms at a single cell/sgRNA level.

  Study EGAS50000001417

• DNA Methylation Profiles of T2D and Control Subjects from the GCAT Cohort Using EPIC v2

  This dataset contains DNA methylation data from 400 individuals (200 Type 2 Diabetes cases and 200 controls) from the GCAT (Genomes for Life) cohort. The methylation profiling was performed using the Illumina Infinium MethylationEPIC v2.0 BeadChip, which offers comprehensive coverage of over 850,000 CpG sites. Data are provided in IDAT file format, enabling raw signal-level analysis and downstream processing.

  Dataset EGAD00010002740

• Visium Spatial tramscriptomics data set

  This data set contains raw FASTQ files and processed files of spatial transcriptomics of 6 EMD samples collected from MM patients. The processed files contain the h5 expression matrices, the Image of the Visium slide, and a TSV of spatial coordinates. Patients included in this data set are PT01A, PT01B, PT02, PT03, PT07, PT08, PT09, PT10, and PT11.

  Dataset EGAD50000000336

• Elucidation of molecular mechanisms of tumorigenesis and development of diagnoses and treatments based on comprehensive genomic analyses in pancreatic tumors, duodenal tumors and biliary tumors

  We performed whole genome and whole exome sequencing analyses of pancreatic tumors, duodenal tumors and biliary tumors and investigated the molecular mechanisms of tumorigenesis based on the comprehensive genome profiling.

  Study JGAS000359

• DNA-seq BAM files from 16 patients affected by acute intermittent porphyria

  Paired-end BAM files from 16 patients affected by acute intermittent porphyria. Whole genome sequencing of these samples was performed in an Illumina HiSeq 4000 instrument. Libraries were prepared using the Fisher PE Kit (Kapa Biosystems). FASTQ files were processed at the CNAG (Barcelona) using the GEM short-read aligner on the human genome version hs37d5, producing a total of 16 BAM files.

  Dataset EGAD00001006951

• Papua New Guinean Genome Altitude Project Dataset 1

  The PGAP dataset 1 includes 81 whole genome sequences for Papua New Guinean individuals sampled in Daru (N=38) and Mount Wilhelm (N=43). DNA was extrated from saliva samples (Oragen kit). Sequencing libraries were prepared using the TruSeq DNA PCR-Free HT kit. 150 bp paired-end sequencing was performed on the Illumina HiSeq X5 sequencer. The PGAP dataset provides Fastq, mapped cram files (GRCh38) and phenotype measurements.

  Dataset EGAD00001010143

• Resolving the Full Spectrum of Human Genome Variation using Linked-Reads

  This dataset contains Linked-Read Whole Exome Sequencing (lrWES) from individuals with known disease-causing variants. The dataset comprises of 30 samples from 10 donors, where multiple samples from the same donor reflect experimental differences assaying the effect of input DNA length on coverage and phasing. Raw data (i.e. BAM files) and variant analysis (i.e. VCF files) for each sample are included in this dataset.

  Dataset EGAD00001004319

• WGS data from NEN patient derived tumor organoids (PDTOs) and matched parental tumors - MUMC

  The dataset includes cram files from WGS of 2 NEN tumors and matched PDTOs. For all tumors, cram files from WGS of matched normal tissue from the corresponding patients are included. Analysis VCF files are also included in the dataset. The sequencing was done with a NovaSeq 6000 instrument.

  Dataset EGAD00001009988

• The exploratory research of diagnositic biomarker and therapeutic targets of renal cell carcinoma.

  We search more effective markers, which predict worse prognosis in patients with RCC and become targets for therapy of RCC, using tissues of patients with RCC by global transcriptional analysis.

  Study JGAS000149

• Transcriptional programming in whole blood reveals changes in pro-inflammatory phenotype explained by changed food and changed life style.

  We here focused on whole blood from paxgene tubes from healthy Tanzanians and the impact of urbanization and diet on innate immune responses. We performed RNA-sequencing of whole blood from paxgene tubes from healthy Tanzanians and investigate that transcriptional changes depend of diet and location.

  Dataset EGAD00001006051