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• BGI study for primary and metastatic Chinese lung adenocarcinomas

  We sequenced 292 patients who were suffering NSCLC with Whole genome sequencing or Exome sequencing method.

  Dataset EGAD00001001397

• ICGC Benchmark 2 (Medulloblastoma)

  Raw fastq files for sequence data generated at 5 sequencing centers from a Medulloblastoma sample and matching blood normal control.

  Dataset EGAD00001001859

• HIV exome pilot, exome data part 1 GRCh37_53

  exome sequence data for 49 HIV elite long term non-progressors and rapid progressors. Partial dataset (overlap with EGAD00001000087) of raw BAMs mapped to GRCh37_53.

  Dataset EGAD00001000047

• CBD-RAW-CLINVAR: Clinical metadata

  Anonymised patient metadata and associated data dictionary. For further information regarding this dataset, please contact Alexander Mentzer at contact@combat.ox.ac.uk.

  Dataset EGAD00001007931

• Single cell and whole tissue transcriptomes investigating Barrett's oesophagus

  Data consists of 4,640 RNA-sequencing sample libraries. These libraries were sequenced from four sites of the upper gastro-intestinal tract (Barrett’s oesophagus, proximal normal oesophagus, proximal normal stomach, and duodenum) in two experiments. 4,587 libraries were produced in the first experiment in which whole transcriptomes were isolated single cells dissociated from endoscopic biopsy tissue obtained from the four previously mentioned tissues. The other 53 libraries were produced in the second experiment in which whole transcriptomes were isolated from whole tissue from endoscopic biopsies of the four previously mentioned tissues. The data found here are stored in the raw fastq file format from paired end sequencing.

  Dataset EGAD00001004344

• Whole exome sequencing, RNA sequencing and single-cell RNA sequencing of 4 melanoma patients

  We perfomed whole exome sequencing and RNA sequencing of 4 melanoma patients to assess the detailed biological mechanisms of resistance to immune checkpoint inhibitors.

  Study JGAS000285

• Whole Exome Sequencing of Bipolar cases and matched a cohort from Edinburgh, Scotland, UK

  Whole Exome Sequencing of 1260 Bipolar cases and matched controls performed at the Broad Institute on a cohort from Edinburgh, Scotland, UK. The exome used Twist capture and samples were sequenced on Illumina HiSeqX machines producing cram files

  Dataset EGAD50000000623

• Exome sequencing of 3 blood samples from tall man and his parents

  Exome sequencing was carried out in a tall male (height 3.5 SDS) and his parents (3 samples). The data was sequences on a Illumina Hiseq2000 and the library was prepared with Agilent SureSelect V4.

  Dataset EGAD00001007767

• Germline alterations of acute myeloid leukemia

  Germline variants may increase the risk of cancer. A systematic analysis was conducted of a consecutive series of primary and secondary adult acute myeloid leukemia (AML) patients. Exome sequencing was performed on leukemic blasts (somatic) and a skin biopsy (germline) followed by analysis on 35 acute myeloid leukemia or cancer predisposition candidate genes. Exome data were available from 68/80 (85%) patients, and full clinical history was available from all patients. The analysis revealed 34 rare single-nucleotide variants or short indels in 16 genes to be functionally adverse in silico.

  Study EGAS00001002760

• Gene expression profiling of nasopharyngeal carcinoma

  We retrospectively collected 150 non-metastatic, pretreatment, formalin-fixed, paraffin-embedded (FFPE) nasopharyngeal carcinoma (NPC) samples as validation cohort 1. Also, we prospectively collected 32 FFPE samples from NPC patients enrolled in a trial evaluating anti-PD-1 antibody as validation cohort 2. Total RNA was extracted and hybridised to an Affymetrix HTA 2.0 microarray. In this study, we investigated the immune status of the tumour microenvironment (TME) based on gene expression profiles to classify NPC into biologically distinct immune subtypes, and clarify their associations with prognosis and immunotherapy response.

  Study EGAS00001004542

• Pharmacogenomic profiling reveals molecular features of chemotherapy resistance in IDH wild type primary glioblastoma

  We stratified 69 primary IDH-wt GBM patients into TMZ-resistant (n = 29) and sensitive (n = 40) groups, using TMZ screening of the corresponding patient-derived glioma stem-like cells (GSCs). Genomic and transcriptomic features were then examined to identify TMZ-associated molecular alterations. Subsequently, we developed a machine learning (ML) model to predict TMZ response from combined signatures. Moreover, TMZ response in multisector samples (52 tumor sectors from 18 cases) was evaluated to validate findings and investigate the impact of intra-tumoral heterogeneity on TMZ efficacy.

  Study EGAS00001006989

• Comprehensive genetic analysis of Epstein-Barr virus-associated hematological malignancy

  Comprehensive genetic analyses including whole-exome sequencing, targeted sequencing, and whole-genome sequencing of the human genome and the Epstein-Barr virus (EBV) genome were performed to reveal the molecular pathogenesis of EBV-associated hematological malignancy.

  Dataset EGAD00001004286

• Single nucleus and in situ RNA sequencing reveals cell topographies in the human pancreas

  To investigate the cellular composition of the human pancreas, we performed single-nucleus sequencing from snap frozen biopsies of pancreata from adult, neonatal and diseased (chronic pancreatitis) human donors.

  Dataset EGAD00001006396

• Single-cell profiling reveals mechanisms of response to anti-PD-L1 versus anti-PD-L1 combined with anti-CTLA4 in head and neck squamous cell carcinoma

  Cancer patients often receive a combination of PD-(L)1 and CTLA4 inhibitors, but the mechanisms underlying their concerted actions remain unclear. We conducted a neoadjuvant study in head and neck squamous cell carcinoma (HNSCC) involving anti-PD-L1 monotherapy versus anti-PD-L1/anti-CTLA4 combination. Single-cell profiling of on- versus pre-treatment biopsies confirmed T-cell expansion as response biomarker. We identified a type 1 immune response accompanying T-cell expansion on-treatment across treatment arms, and herein characterized co-localized IgG plasma cell expansion as important contributor. In pre-treatment biopsies, similar features correlated with expansion upon anti-PD-L1, but not anti-PD-L1/anti-CTLA4. By profiling tumor-draining lymph nodes, we found the addition of anti-CTLA4 to trigger activation and subsequent trafficking of CD4+ T-cells via the blood, to become T-helper 1 cells in the tumor. anti-PD-L1/anti-CTLA4 indeed facilitated co-localized expansion of CD4+ and CD8+ T-cells in tumors versus mostly CD8+ T-cells with anti-PD-L1 alone. Hence, we identify complimentary mechanisms underlying anti-PD-L1/anti-CTLA4 therapy in HNSCC.

  Study EGAS50000000037

• A first-in-human clinical study of an allogenic iPSC-derived corneal endothelial cell substitute transplantation for bullous keratopathy

  iPSC-derived corneal endothelial cell substitutes recover pathological corneal edema. No adverse reactions are observed after one year follow-up. Gene mutations may appear despite whole genome sequencing of the master cell bank. This study contains WGS data.

  Study EGAS50000000672

• Exome sequencing of control DNA samples from patients with BPLL

  DNA extracted from sorted CD3+ cells (16 patients) was used for exome capture with the SureSelect V5 Mb All Exon Kit following the standard protocols. Paired-end sequencing (2 x 100 bp) was performed using HiSeq2000 sequencing instruments.The files are in FASTQ format.

  Dataset EGAD00001004411

• NIHR BioResource Rare Diseases WGS project - Leber Hereditary Optic Neuropathy (LHON) Rare Disease domain

  Short read whole genome sequencing (WGS) CRAM files for the NIHR BioResource Rare Diseases WGS project – Participants from the Leber Hereditary Optic Neuropathy (LHON) Rare Disease domain

  Dataset EGAD00001005122

• SCLC study George et al. - RNA-sequencing data set

  RNA-sequencing (RNA-seq) was performed with RNA extracted from fresh-frozen human tumor tissue samples. cDNA libraries were prepared from poly-A selected RNA applying the Illumina TruSeq protocol for mRNA. The libraries were then sequenced with a 2 x 100bp paired-end protocol to a minimum mean coverage of 30x of the annotated transcriptome.

  Dataset EGAD00001001244

• Dissecting Autoimmune Cellular and Molecular Networks in Vitiligo

  This study consists of suction blister biopsies of primary human skin samples, collected from healthy patients, or patients with vitiligo. Healthy patients had healthy skin sampled. Vitiligo patients had both unaffected (non-lesional) and affected (lesional) skin sampled. The generated data consists of scRNA-seq samples generated following the inDrops method (Klein et al., 2015; PMID: 26000487).

  Study phs002455

• Amplicon based NGS of human CD4 and CD8 T cells

  Panel-based next-generation sequencing data of 211 human CD4 T cells, CD8 T cells and genomic DNA. The panel was designed to capture 260 SNVs in high linkage disequilibrium with multiple sclerosis susceptibility SNVs. NGS was carried out using PE300 reads on the Illumina MiSeq (Illumina Inc., San Diego, CA, United States).

  Study EGAS00001004139

• Aligned reads from specific genomic locations derived from Illumina HiSeqX and HiSeq2000 whole genome sequence data

  This dataset includes bam files from 3,001 samples. These bam files include all read pairs where at least one of the reads aligns within 1kb of the C9orf72 repeat expansion. Additionally, these bam files also contain reads that are aligned to any of 29 pre-determined off target locations where the aligners are known to mis-align reads associated with this repeat expansion. These samples were sequenced using a combination of 2x100bp reads on an Illumina HiSeq2000 and 2x150bp reads on an Illumina HiSeqX sequencer and aligned using the Isaac aligner.

  Dataset EGAD00001003513

• Partially methylated domains across multiple cell types

  Partially methylated domains are extended regions in the genome exhibiting a reduced average DNA methylation level. They cover gene poor and transcriptionally inactive regions and tend to be heterochromatic. We present a comprehensive comparative analysis of partially methylated domains in human and mouse cells, to identify structural and functional features associated with them.

  Study EGAS00001003157

• RNA sequencing of untreated and treated KRAS-mutated metastatic colorectal cancer PDX-derived organoids.

  RNA sequencing was performed on patient-derived xenograft (PDX)-derived organoid models of metastatic colorectal cancer (mCRC). The aim of this study was to characterize the transcriptional landscape of KRAS-mutant mCRC cells in response to therapeutic strategies targeting the EGFR and KRAS signaling pathways. Transcriptomic profiling was conducted following drug treatments to investigate molecular changes associated with single and combination therapies. A total of 24 samples were analyzed.

  Dataset EGAD50000002443

• GCAT| WGS Imputation Panel V1

  This dataset includes the .hap, .legend and .sample files from the GCAT|Panel (Iberian reference panel), built from 785 samples, after QC, from the 808 WGS GCAT cohort, including 30.3M SNVs, 5M Indels and 89K SVs. This resource has been generated using Shapeit4 and WhatsHap software. Technology used HiSeq 4000, read length 150 bp, inner mate disatance 300 bp.

  Dataset EGAD00010002153

• Therapy-related myeloid neoplasms and HSPCs from the International-Berlin-Frankfurt-Münster (I-BFM) Study group

  Dataset contains WGS sequencing data from bulk sorted therapy-related myeloid neoplasms (t-MN) and reference cells (MSCs/B cells/T cells). In addition, from 4 patients, also WGS data from single hematopoietic stem and progenitor cells, obtained from samples of t-MN diagnosis, are included. These are either clonally expanded before WGS, or DNA was directly amplified via the primary template-directed amplification (PTA) protocol (mentioned in the sample name).

  Dataset EGAD00001011256

• Exome sequencing of samples taken at multipl time points to monitor therapy response in AML

  As part of our individualized systems medicine program, personalized treatment options are identified and administered to chemorefractory AML patients based on exome sequencing and ex-vivo drug sensitivity and resistance testing data. In this study, we developed this approach further to take into account clonal heterogeneity and analyzed responses of 13 AML patients to chemotherapy and six patients to targeted treatments by using exome and ultra-deep amplicon resequencing. The data submitted includes fastq files from exome sequencing of multiple time-point samples collected from the 13 patients. In this study we identified rare subclonal variants present at diagnosis or later relapse samples and developed a correlation-based method to compare subclonal responses in serial samples across multiple time-points. Significant subclone-specific responses were observed subsequent to chemotherapy and specifically to targeted therapy in five patients.

  Study EGAS00001001948

• Cell fate mapping of human glioblastoma reveals an invariant stem cell hierarchy pre- and post-treatment

  Human glioblastomas (GBMs) are thought to harbour a subpopulation of glioblastoma stem cells (GSCs) that initiate tumour formation and regrowth following treatment. However, the origin of their proliferative heterogeneity during tumour growth pre- and post-treatment remains poorly understood. Here we study the clonal evolution of DNA barcoded GBMs following their serial propagation in xenograft mouse models to define the fate behaviour of individual GBM cells. Through quantitative analysis of clone sizes scored across multiple passages, we show that the growth of GBM clones in vivo are consistent with a remarkably neutral process resulting from a conserved proliferative hierarchy. In this model, slow-cycling stem-like cells give rise to a more rapidly cycling progenitor population with extensive self-maintenance capacity, that in turn generates short-lived cells that lack proliferative ability. We also identify rare "outlier" clones that deviate from these dynamics, and further show that chemotherapy reproducibly facilitates the selective expansion of pre-existing drug-resistant GBM lineages. Finally, we show that coexisting, functionally distinct GSCs may be targeted separately with epigenetic compounds. These findings show that, independent of an evolving mutational signature, the clonal dynamics of human GBM can be surprisingly robust, with intratumoural heterogeneity derived primarily from the defined stochastic fate behaviour of tumour cells within a conserved proliferative hierarchy.

  Study EGAS00001002424

• Eribulin efficacy in platinum-resistant and refractory high-grade serous ovarian cancer patient-derived xenograft models

  Objectives: To determine the potential of anti-microtubule agent (AMA) therapy (paclitaxel, vinorelbine and eribulin) in platinum-resistant or refractory (PRR) HGSC by assessing response in patient-derived xenograft (PDX) models of HGSC. Approach:We characterized a cohort of PRR HGSC PDX models generated from treatment naïve or postsystemic therapy specimens, representative of individuals with PRR HGSC in the clinic. Whole-exome sequencing was carried out on five PDX tumours and whole-genome sequencing was carried out on one patient tumour.

  Study EGAS50000000152

• RNAseq - Discovery of resistance mechanisms to the BRAF inhibitor vemurafenib in metastatic BRAF mutant melanoma

  We propose to biopsy 20 consented BRAF mutant melanoma patients at Addenbrooke's Hospital pre-treatment with vemurafenib and also upon the development of resistant disease, with the aim of using exome sequence and SNP6 data to identify novel sequence variants and copy number alterations that can be used to validate observed resistance mechanisms in our cell line models and also to use these models to inform as to likely candidate small molecule inhibitors to overcome resistance and that could be tested in the clinical trial setting.

  Dataset EGAD00001001050

• Discovery of resistance mechanisms to the BRAF inhibitor vemurafenib in metastatic BRAF mutant melanoma

  We propose to biopsy 20 consented BRAF mutant melanoma patients at Addenbrooke's Hospital pre-treatment with vemurafenib and also upon the development of resistant disease, with the aim of using exome sequence and SNP6 data to identify novel sequence variants and copy number alterations that can be used to validate observed resistance mechanisms in our cell line models and also to use these models to inform as to likely candidate small molecule inhibitors to overcome resistance and that could be tested in the clinical trial setting.

  Dataset EGAD00001001046

• Target bisulfite sequencing of endometrial cancer

  This study aims to investigate epigenetic alterations in the HLA-A locus in endometrial cancer. Targeted bisulfite sequencing was performed to evaluate DNA methylation status of the HLA-A region in a cohort of endometrial cancer samples. The resulting data were used to assess the association between HLA-A methylation and tumor immune microenvironment. These findings contribute to understanding the role of epigenetic regulation of antigen presentation in endometrial cancer.

  Study JGAS000897

• single cell RNA-seq of small cell lung cancer circulating tumor cells

  This study investigated the transcriptomic profile of circulating tumor cells from three small cell lung cancer patients. CTCs were enriched from the blood of three SCLC patients using the CTC-iChip followed by magnetic depletion of RBCs. The enriched samples were processed with the 10x Genomics Chromium platform (Chromium GEM-X Single Cell 3' Kit v4) and sequenced on a NextSeq 2000 system.

  Study EGAS50000001401

• Oncogenic gene fusions in primary colon cancers

  This study represents RNA-sequencing data from 278 primary colon cancers obtained from fresh-frozen tumor sections. The project goal was to identify novel oncogenic gene fusions in these data. In addition, we studied the detected gene fusions at the molecular level and defined their effects on downstream pathways.

  Study EGAS00001002197

• The_British_Autozygosity_Populations_BioResource

  This data set contains whole exome sequences of 500 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.

  Study EGAS00001001565

• Hi-C analysis of metastatic prostate tumors

  DNA strands have a complex and highly structured three-dimensional shape within the nucleus that has profound but poorly characterized impacts on transcriptional activity. Herein, we performed the first integrated deep Hi-C sequencing on 80 metastatic castration-resistant prostate cancer biopsy samples from the West Coast Dream Team consortium.

  Study EGAS00001006604

• Hi-C analysis of metastatic prostate tumors - Part 2

  DNA strands have a complex and highly structured three-dimensional shape within the nucleus that has profound but poorly characterized impacts on transcriptional activity. Herein, we performed the first integrated deep Hi-C sequencing on 80 metastatic castration-resistant prostate cancer biopsy samples from the West Coast Dream Team consortium.

  Study EGAS00001006612

• Long read whole genome sequencing data from brain postmortem tissue

  Chart genetic variation in the human brain in healthy controls and Parkinson’s disease (PD) patients.

  Study EGAS50000000921

• Exome sequencing of hyperplastic polyposis patients

  In this project we are sequencing the exomes of patients with hyperplastic polyposis, and tumours from these patients.

  Study EGAS00001000040

• Characterizing the tumor immune microenvironment of ependymomas using targeted gene expression profiles and RNA-sequencing the pros and cons

  RNA sequencing data of a collection of 6 pediatric ependymoma cases

  Study EGAS00001006535

• Effects of psoriasis and psoralen exposure on the somatic mutation landscape of the skin

  Data from sequencing of microbiopsies of keratinocytes isolated via laser capture microscopy from lesional and non-lesonal skin biopsies from psoriasis patients.

  Dataset EGAD00001011265

• APC-related multiple salivary gland lesions

  This study aims to investigate the genetic and molecular mechanisms underlying a novel phenotype of attenuated familial adenomatous polyposis (AFAP), where affected individuals develop multiple salivary gland tumours, including basal cell adenomas and adenocarcinomas.

  Study EGAS50000001159

• GEOCODE Cohort

  We built a large cohort of 406 healthy individuals and expanded the immune cis-regulome through their whole blood transcriptome obtained after stimulation with specific toll-like receptor (TLR) agonists and T-cell receptor (TCR) antagonist

  Study EGAS50000000903

• Whole genome sequencing of circulating cell-free DNA on Illumina and Ultima platforms

  The dataset includes Illumina (n=1) and Ultima (n=92) sequencing of circulating cell-free DNA. The dataset was generated through standard whole genome sequencing (Illumina n=1 & Ultima n = 15) and using a duplex unique molecular identifier whole genome sequencing workflow (Ultima, n=77). This dataset includes cancer samples and cancer-free control samples.

  Dataset EGAD50000001234

• Single-cell transcriptome sequencing of regulatory and conventional T cells in breast cancer patients and healthy individuals.

  Identification of tumor-specific effects on gene expression profile of regulatory T cells and conventional T cells in humans, investigation of the clonal origin of regulatory T cells and impact analysis of tumor-specific conversion of conventional T cells into induced regulatory T cells on the peripheral regulatory T cell repertoire in humans.

  Dataset EGAD00001004069

• Childhood_Cancer_Paediatric_Behjati_SRF_Targeted_Nanoseq_TE_96389176_Managed_Access

  An exploratory study using targeted NanoSeq on a bait set of common paediatric cancer genes and cancer predisposition genes to assess mutations, mutational signatures, treatment effect, risk of relapse and to study the development of childhood cancer.

  Study EGAS00001007424

• Childhood_Cancer_Paediatric_Behjati_SRF_WGS_Nanoseq_Managed_Access

  An exploratory study using WGS NanoSeq on a bait set of common paediatric cancer genes and cancer predisposition genes to assess mutations, mutational signatures, treatment effect, risk of relapse and to study the development of childhood cancer.

  Study EGAS00001007898

• Nascent transcriptome in T-ALL bone marrow

  Nascent RNA expression profiles were generated with Global Run-On sequencing (GRO-seq) from T-ALL patient samples to measure primary transcription genome-wide and to summarize the transcriptional activity at gene loci and enhancers.

  Study EGAS00001005864

• HOVON152 Trial shallow Whole Genome Sequencing

  Associated with Molecular profiling of HGBCL-DH-BCL2 patients treated in the HOVON-152 triaL. Targeted sequencing of 30 samples from 30 High-grade B-cell lymphoma patients. Targeted sequencing was used for identify genomic alterations associated with patient outcome.

  Dataset EGAD50000002094

• Low-coverage Whole Genome Sequencing, colorectal carcinomas NKI-AvL TGO series NGS-ProToCol

  The dataset "Low-coverage Whole Genome Sequencing, colorectal carcinomas NKI-AvL TGO series NGS-ProToCol" includes 30 fastq files from single-end low-coverage WGS on Illumina HiSeq2500 for 30 snap-frozen colorectal carcinomas.

  Dataset EGAD00001004093

• Low-coverage Whole Genome Sequencing, colorectal adenomas NKI-AvL TGO series NGS-ProToCol

  The dataset "Low-coverage Whole Genome Sequencing, colorectal adenomas NKI-AvL TGO series NGS-ProToCol" includes 30 fastq files from single-end low-coverage WGS on Illumina HiSeq2500 for 30 snap-frozen colorectal adenomas.

  Dataset EGAD00001004092

• CLL targeted exome sequencing (2018-03-14)

  Aim to characterise cancer gene landscape in CLL, particularly in cases with mutated POT1 gene. Treatment-naive CLL cases will be interrogated by targeted exome sequencing using a cancer gene panel. . This dataset contains all the data available for this study on 2018-03-14.

  Dataset EGAD00001004037

• RNA-seq colorectal adenomas NKI-AvL TGO series NGS-ProToCol

  The dataset "RNA-seq colorectal adenomas NKI-AvL TGO series NGS-ProToCol" includes 2 x 30 fastq files from paired-end total RNA sequencing on Illumina HiSeq2500 for 30 snap-frozen colorectal adenomas.

  Dataset EGAD00001004055

• RNA-seq colorectal carcinomas NKI-AvL TGO series NGS-ProToCol

  The dataset "RNA-seq colorectal carcinomas NKI-AvL TGO series NGS-ProToCol" includes 2 x 30 fastq files from paired-end total RNA sequencing on Illumina HiSeq2500 for 30 snap-frozen colorectal carcinomas.

  Dataset EGAD00001004056

• Bisulphite MPN colonies (2019-09-05)

  Swift kit whole genome bisulphite of MPN colonies . This dataset contains all the data available for this study on 2019-09-05.

  Dataset EGAD00001005313

• SF11949 snATAC Seq IDH1 mutant oligodendroglioma Male

  IDH1 mutant oligodendroglioma male, 40. Single Nuclei ATAC seq data from low grade human glioma sample. NovaSeq6000 was used for ATAC seq. The files uploaded are bam files created with grch38 reference.

  Dataset EGAD00001005398

• SF12017 snATAC Seq IDH1 Mutant GBM 55, Male

  IDH1 mutant GBM 55, Male. Single Nuclei ATAC seq data from high grade human glioma samples. NovaSeq6000 was used for ATAC seq. The files uploaded are bam files created with grch38 reference.

  Dataset EGAD00001005405

• SF11215 snATAC Seq GBM

  High grade glioma sample, Gender Male Age 46. Single Nuclei ATAC seq data from high grade human glioma samples. NovaSeq6000 was used for ATAC seq. The files uploaded are bam files created with grch38 reference.

  Dataset EGAD00001005407

• SF11331 snATAC Seq Primary GBM Male

  SF11331 Primary GBM Male,55 Single Nuclei ATAC seq data from high grade human glioma sample. NovaSeq6000 was used for ATAC seq. The files uploaded are bam files created with grch38 reference.

  Dataset EGAD00001005408

• SF11612 scRNA-Seq Recurrent oligodendroglioma

  Single Cell RNA seq from Recurrent oligodendroglioma sample. Gender Male Age 67. NovaSeq6000 was used for RNA seq. The files uploaded are bam files created with grch38 reference through Cellranger count (10xGenomics.)

  Dataset EGAD00001005411

• SF11612 snATAC Seq Recurrent oligodendroglioma

  SF11612 Recurrent oligodendroglioma. Gender Male Age 67. Single Nuclei ATAC seq data from low grade human glioma samples. NovaSeq6000 was used for ATAC seq. The files uploaded are bam files created with grch38 reference.

  Dataset EGAD00001005413

• SF9259S snRNA-Seq Primary GBM

  Single Nuceli Primary GBM 73 Male. Single Nuclei RNA seq from high grade primary glioma sample. NovaSeq6000 was used for RNA seq. The files uploaded are bam files created with grch38 reference.

  Dataset EGAD00001005428

• Whole Genome Sequencing - HAP1 clones

  Whole genome sequencing on HAP1 clones wild-type or knockout for MMR genes PMS1, PMS2, MLH1 or MSH6. Libraries were prepared using the Kapa HyperPrep kit (Roche, 07962363001). Paired-end libraries (2 x 150 bp) were sequenced on a NovaSeq 6000 instrument (Illumina).

  Dataset EGAD50000002393

• BAM-format HiFi whole genome sequencing reads (PacBio Revio) from stabilized human saliva

  HiFi whole‑genome sequencing data from a single human saliva sample collected and stabilized using an Oragene device. Sequencing was performed on a SMRT® Cell using PacBio Revio™ SPRQ chemistry. Sequencing produced >100 Gb of HiFi reads yielding >30× genome coverage suitable for comprehensive variant and methylation analysis. Dataset includes long‑read HiFi sequences in BAM format, containing both aligned and unaligned reads.

  Dataset EGAD50000002398

• B cells (CD19) RNAseq dataset of JIA patients with known uveitis status.

  CLUSTER consortium RNA sequencing dataset from UK JIA patient cohort with documented uveitis status. Peripheral blood mononuclear cells (PBMCs) were isolated from blood samples and cryopreserved. Samples were subsequently thawed and flow-sorted for CD19+ B cells prior to RNA sequencing. Clinical metadata includes patient demographics and uveitis status at time of sampling.

  Dataset EGAD50000001616

• Genomic Landscape and Clonal Architecture in Pediatric Myeloid Neoplasms with Chromosome 7 Deletions

  Full and partial loss of chromosome 7 (del7, 7q-) are prevalent cytogenetic abnormalities in pediatric myeloid neoplasms resulting in haploinsufficiency of key hematopoietic regulators on chromosome 7. While the genomic landscape of myeloid neoplasms in adults with del7 and 7q- has been described, pediatric patients with similar chromosome 7 losses have not been compiled into a single, comprehensive study utilizing modern sequencing strategies. To this end, we assembled a cohort of 108 pediatric and young adult patients representing a mixture of diagnoses. Using WGS, WES, and RNAseq, we compared the co-occurring mutations and gene expression levels in our cohort to those found in pediatric and young adult patients with two intact copies of chromosome 7. We also performed single-cell multi-omics on a subset of eight samples.

  Study EGAS00001008055

• Neuroblastoma tumor heterogeneity and cell plasticity (from patients)

  Two cell identities, noradrenergic and mesenchymal, have been characterized in neuroblastoma cell lines according to their epigenetic landscapes relying on specific core regulatory circuitries of transcription factors. Yet, their relationship and relative contribution in patient tumors remain to be defined. Here, we document a spontaneous plasticity between the noradrenergic and mesenchymal identities in a subset of cell lines. Strikingly, mesenchymal neuroblastoma cells revert to a noradrenergic phenotype in vivo. Consistently, tumor cells with a mesenchymal identity are detected in single-cell transcriptomic analyses of neuroblastoma tumors and PDX models. Our data also highlight neuroblastoma intra-tumor heterogeneity with the co-existence of distinct tumor populations, including sympathoblast-like and chromaffin-like cells suggesting that neuroblastoma cells arise from a common sympatho-adrenal progenitor.

  Study EGAS00001005322

• Identifying and Reducing Disparities in Patient-Reported Outcomes Among African American Prostate Cancer Survivors

  This research study aimed to identify disparities in prostate cancer symptom burden and their contributors among African American, Hispanic, and non-Hispanic White prostate cancer survivors. We collected patient-reported outcomes data, focusing on various aspects of the survivors' health and well-being, clinical data, demographics data, and germline genomic data.

  Study phs003745

• Profiling of H3K27ac landscape in immune cells from rheumatoid arthritis patients and healthy controls

  We collected peripheral blood mononuclear cells (PBMC) from 6 RA patients and 4 healthy controls, as well as synovial fluid from the same RA patients. We then sorted B cells, CD4+ and CD8+ T cells, regulatory T cells and monocytes using flow cytometry and profiled regions marked with H3K27ac using CUT&Tag.

  Study EGAS00001005085

• exploration of biomarkers in colorectal cancer

  Targeted therapies based on the molecular and histological features of cancer types are becoming standard practice. To understand the molecular basis of colorectal cancer, we performed CAGE (Cap Analysis of Gene Expression) to quantify promoter activities on 45 colorectal cancers.

  Study JGAS000489

• WGS_skin_punches

  We wish to understand the degree of copy number alterations in normal human sun exposed skin. We have collected small punches of epithelia and using a bait set design have shown the these span a clone. WGS will provide copy number information on these.

  Study EGAS00001004465

• Single-cell transcriptomics of neuroblastoma tumors

  Single-cell RNA-sequencing (CITE-seq) and single-nucleus RNA-sequencing data were generated from neuroblastoma patient tumors to uncover transcriptional heterogeneity at a single-cell resolution. In addition, we used the data to validate our findings of the NBAtlas.

  Study EGAS50000000223

• Transposome_Bisulfite_Sequencing

  DNA belonging to 16 tumour/normal samples were treated with bisulfite, then up to 5 different bisulfite PCRs were performed in each one of the samples. Amplicons form the same sample were pooled and submitted to sequencing on a MiSeq platform.

  Study EGAS00001000751

• Childhood cerebellar tumors mirror conserved fetal transcriptional programs

  We used single-cell transcriptomics to study >60,000 cells from the developing murine cerebellum, and show that different molecular subgroups of childhood cerebellar tumors mirror the transcription of cells from distinct, temporally restricted cerebellar lineages.

  Study EGAS00001003170

• Mutational_burden_in_oesophagus_following_chemotherapy_and_radiotherapy_treatment

  We wish to assess the changes in signature and mutational burden in patients who have undergone either chemotherapy or chemotherapy + radiotherapy. Using duplex sequencing will assess the mutational landscape in oesophageal epithelia in patients who have undergone these treatment regimes.

  Study EGAS00001005552

• Whole-exome sequencing of BCP HD ALL on Illumina HiSeq 2000, 100 bp paired-end

  Genomic DNA from leukemic and remission bone marrow mononuclear cells was isolated with the QIAamp DNA Blood Extraction Kit (Qiagen, Venlo, The Netherlands). Libraries were prepared with the Illumina TruSeq DNA Sample Prep and TruSeq Exome Enrichment Kits (Illumina, San Diego, CA, USA) according to the manufacturer's recommendations. 100 bp paired-end sequencing was performed on a HiSeq 2000 (Illumina) to about 80x coverage.

  Dataset EGAD00001002653

• Indonesian Microbiome Ecology and Evolution

  This study investigates patterns of human gut microbiome variation across Indonesia. We performed metagenome-assembled genome (MAG) assembly and employed genome-resolved methods to quantify and characterise microbial abundance within and across sampled communities, that span hunter-gatherer, agricultural and urban contexts. Paired with lifestyle, diet and biometric metadata, this study seeks to disentangle the drivers of microbiome variation across communities, lifestyle and geography.

  Study EGAS50000000961

• A Randomized Multi-Institutional Phase II Trial of Everolimus as Adjuvant Therapy in Patients with Locally Advanced Squamous Cell Cancer of the Head and Neck

  This genomic study was an analysis of DNA samples from subjects enrolled in a randomized, interventional, parallel assignment trial of everolimus versus placebo in advanced Head and Neck Cancer. Next Generation Sequencing was performed on samples obtained from primary tumors before treatment. The purpose was to evaluate potential associations between intervention, mutations and outcomes.

  Study phs002986

• Transcriptomic Profiling of Bulk Tissue and Laser-Capture Microdissected Neurons of Postmortem Human Brains in the Superior Temporal Gyrus

  We performed RNA-Seq on bulk tissue and laser-capture microdissected (LCM) neurons from 59 postmortem human brains in the superior temporal gyrus (STG) to investigate Autism Spectrum Disorder (ASD)-associated transcriptomic changes. We examined post-mortem brain tissue from 27 subjects with ASD and 32 neuro-typical controls. Raw RNA-Seq data in FASTQ format are provided.

  Study phs003208

• M116 Microbiome data

  M116 stool was collected from 3 different days (3 biological replicates) and kept at -20ºC until DNA extraction (Biobanc IDIBGI and Goodgut®). Total genomic DNA was extracted from 150–200 mg of each stool sample after homogenisation using the DNeasy Powersoil Pro kit (Qiagen®) according to manufacturer’s instructions. Quality and quantity of DNA were evaluated using Qubit® BR kit on a Qubit®2.0 fluorimeter (ThermoFisher Scientific®) and on a Nanodrop ND-2000 UV-Vis spectrophotometer (ThermoFisher Scientific®). The v3-v4 region of the bacterial 16S rRNA gene was amplified and sequenced (paired-end 250-bp) following standard practices at external facilities (Novogene®) using previously described primers 515F. Files types included in this dataset are raw Fastq files.

  Dataset EGAD50000001288

• RNA-seq analysis refines molecular subtypes of hepatocellular carcinoma

  This work aims to identify homogeneous and robust molecular subtypes in HCC based on a large, homogenous and well-annotated cohort. We performed RNA sequencing (RNA-seq) on 529 HCC from 461 patients collected mainly in France. Based on the consistency between genomic and transcriptomic data, we identified 9 robust HCC subtypes mainly based on driver mutations. We further characterized HCC subtypes using transcriptomic and clinicopathological features. Our study provided a robust molecular classification based on a large HCC dataset from a Western country, improving our understanding of the mechanisms of carcinogenesis and facilitating the development of genome-based precision medicine in HCC.

  Dataset EGAD00001015427

• Targeted exome sequencing identify compound heterozygous TYK2 mutations in patients with primary immunodeficiency who developed EBV-associated lymphoma

  In this study, we evaluated 2 siblings with primary immunodeficiency who developed EBV-associated lymphoma. Immunophenotyping of PBMCs revealed that both patients had significant T cell lymphopenia characterized by low na?ve CD4+ T cell counts. To identify the causative genetic mutations in the patients, we performed targeted exome sequencing using the Illumina MiSeq on the patients and their parents. The results showed a novel compound heterozygous mutations in the gene encoding tyrosine kinase 2 (TYK2) in the patients.

  Study JGAS000098

• Team

  The Team Mallory Freeberg Roderic Guigó Arcadi Navarro Helen Parkinson Jordi Rambla Ana T. Alonso Silvia Bahena Àlex Bedmar Kenneth Buckley Aldar Cabrelles Ángel Carreño Marcos Casado Giulia Cellerino Amy Curwin Teresa D'Altri Abeer Fadda Teresa Garcia Sara Gregorio Max Fischer Bela Juhasz Oriol Lopez-Doriga Mireia Marin Óscar Martínez Andrea Mero Akiris Moctezuma Aurora Moreno Liina Nagirnaja Francesc de Puig Santiago Rensonnet Gabriele Rinck Aravind Sankar Andres Silva Coline Thomas Sabela de la Torre Gemma Vicente The EGA Team at the CRG co-manages the European Genome and phenome Archive together with the EGA Team at the European Bioinformatics Institute. In addition to maintaining and distributing data, we enrich the contents of the EGA contributing with our knowledge about genomics and the relationship between genomes and phenomes. Previous Team Members Alexander Vikhorev Jeff Almeida-King Mario Alberich Sergi Aguilo Pablo Arce Minjie Ding Alfred Gil Leslie Glass Jag Kandasamy Vasudev Kumanduri llkka Lapalainen Audald Lloret i Villas Sira Martinez Anand Mohan Dietmar Orth Justin Paschall Saif Ur Rehman Gary Saunders Thomas Smith Ashutosh Shimpi Marc Sitges Dhvani Solanki Giselle Kerry Nino Spataro Dylan Spalding Matthieu Vizuete-Forster Cristina Yenyxe Gonzalez Garcia Paul Flicek Anna Foix Emilio Garcia Rios Jorge Izquierdo Roberto Ariosa Marta Ferri Peradalta Daniel Barrowdale Babita Singh Umuthan Uyan Aleix Canalda Dona Shaju Mauricio Moldes Carles Garcia Frédéric Haziza Alegria Aclan Lauren Fromont Alvis Brazma Marta Huertas Arnau Soler Gemma Milla Claudia Vasallo Aina Jené Csaba Halmagyi Raül Garcia Thomas Keane Mei Gascón

  Documentation about/team

• Paired RNA-Seq of 32 samples of chemo-naïve and post-chemotherapy PDAC tumors

  Paired RNA-Seq of 32 samples of chemo-naïve and post-chemotherapy PDAC tumors (HIPO_015) to define the molecular and cellular impact of neoadjuvant chemotherapy. Transcriptome analysis combined with high resolution mapping of whole tissue sections identified GATA6 (Classical), KRT17 (Basal-like) and Cytochrome P450 3A (CYP3A) co-expressing cells that were preferentially enriched in post-CTX resected samples. The sequencing was done on HiSeq2000/HiSeq2500 using the Takara_SMARTer_Ultra_Low_Input_RNA_and_NEBNext_ChIP-Seq Kit.

  Dataset EGAD00001010884

• Genomic Copy-Number Variants Drive Apoptotic Resistance and Relapses on Immune Checkpoint Inhibitors

  We investigated the genomic mechanisms underlying acquired resistance (AR) to immune checkpoint inhibitors (ICIs) across tumor types, specifically by examining how copy number variant (CNV)-driven subclonal evolution contributes to clinical relapses in melanoma patients. We analyzed longitudinal clinical melanoma samples from patients who experienced relapses on ICI therapy, complemented by isogenic human melanoma cell line models (M486) and murine melanoma tumor systems. Single-cell whole-genome sequencing (scWGS) was employed to resolve subclonal CNV patterns in AR tumors. The scWGS data revealed that AR-dominant subclones systematically deleted pro-apoptotic genes while amplifying anti-apoptotic genes and innate resistance pathway components. Notably, shared and private AR subclonal CNVs preexisted selective pressure, with convergent evolution targeting apoptosis-regulatory pathways and resulting in downregulated apoptotic/mitochondrial priming that enables ICI resistance. scWGS datasets from isogenic human melanoma cell lines, patient-matched tumor samples, and murine melanoma models will be made available through dbGaP, enabling researchers to access high-resolution subclonal CNV profiles that define the genomic landscape of acquired ICI resistance evolution.

  Study phs004102

• Paired FastQ files from deep targeted DNA sequencing

  This dataset comprises paired-end and time-matched FastQ files from 356 cell-free DNA samples and 356 white blood cell DNA samples, derived from 299 patients with metastatic renal cell carcinoma or urothelial carcinoma. A baseline sample was available for all patients. Sequencing was performed using Illumina technology.

  Dataset EGAD50000001267

• BIOMIROX

  This dataset regroups RNAseq of paired primary colorectal cancers and liver metastases extracted from 113 patients In Paris and Besançon University Hospitals. 216 FASTQ files from single-end 3' PolyA (QuantSeq 3′mRNA-Seq Kit FWD for Illumina (Lexogen)) RNAseq samples were generated On NOVASEQ 6000 (ILLUMINA).

  Dataset EGAD50000000443

• IMpower133 (GO30081) clinical data and biomarker data

  Relevant clinical data for IMpower133 (GO30081) including treatment arm, overall survival, progression-free survival, best overall response, PD-L1 IHC, molecular subtype, and baseline clinical features.

  Dataset EGAD50000000195

• Sequencing data for oesophageal and related samples - Katz-Summercorn, Jammula et al (RNA)

  Data supporting: “Multi-omic cross-sectional cohort study of pre-malignant Barrett’s esophagus reveals structural variation and retrotransposon activity occur early in cancer evolution.” Katz-Summercorn, Jammula et al. RNAseq (BAM files)

  Dataset EGAD00001006353

• Novel method for efficient establishment, expansion and drug response profiling of high-grade serous ovarian cancer organoids

  HGSOC patient-derived organoids and their tissue of origin

  Dataset EGAD00001008753

• Optimized large-scale longitudinal biorepository of gastroesophageal adenocarcinoma patient-derived organoids: High-fidelity models for personalized treatment to overcome resistance

  Whole exome sequencing of patient tumour samples and matched patient derived organoids.

  Dataset EGAD50000002315

• WGS and WXS for mismatch repair-deficient human colon organoids

  Whole genome/exome sequencing to detect spontaneous acquired mutations in mismatch repair-deficient human colon organoids.

  Dataset EGAD50000000159

• GCAT| SNParray GSA TopMed

  2746 samples issued from GCAT cohort, genotyped with GSA Array, with data for Cr1-23. Plink files with QC and imputed using TOPMed.

  Dataset EGAD00010002758

• Whole exome sequencing of serially sampled TNBC patients on pre/on PARP inhibitor

  Novaseq whole exome raw sequence files (FastQ) for breast cancer tumor core biopsies and blood normal control.

  Dataset EGAD00001007916

• RNA-seq data for HCC patients from Y90+Nivolumab trial

  This dataset includes RNA-seq fastq files of pre-treatment and on-treatment samples from 28 patients

  Dataset EGAD00001010132

• RNA-sequencing of cohesin-mutated and wildtype adult AMLs

  Transcriptomic data generated by RNA-sequencing for adult human AMLs with STAG2 or RAD21 mutations or no cohesin mutations (CTRL-AMLs).

  Dataset EGAD00001011197

• Whole genome sequencing of 78 follicular lymphoma tumours and matched normals

  Whole genome sequencing for tumour/normal matched pairs from 78 samples

  Dataset EGAD00001011343

• The APL DAC comprises a clinician and biologist who conducted the study.

  Dac EGAC00001000865

• RNA sequencing data of pediatric T-cell acute lymphoblastic leukemia (set 3)

  The dataset includes RNA sequencing FASTQ files from diagnostic tumor samples of two T-ALL patients (ALLK-126, ALLT-503). Two diagnostic samples of ALLT-503 were sequenced: one extracted from the bone marrow (ALLT-503D-RNA) and one from the lymph node (ALLT-503lympD-RNA). Novogene's internal method was used in directional library preparation including rRNA removal. The diagnostic tumor samples were sequenced using Illumina Novaseq X Plus, and the target sequencing depth was 21 Gb per sample.

  Dataset EGAD50000002586

• McQuillin_Global_WES_Schizophrenia

  Whole Exome Sequencing of Schizophrenia cases and matched controls performed at the Broad Institute on a cohort from UCL, London, UK

  Study EGAS50000000901

• Transcriptomic landscape of C1498 cells

  We characterized the mutations and gene fusion events (at RNA level) of C1498 cells by whole transcriptome sequencing analysis.

  Study EGAS50000001674