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• Sequencing data for ICGC Oesophageal Adenocarcinoma tissue samples - TLR_pathway_study

  upcoming publication

  Dataset EGAD00001001960

• CNA vcf files for CPCG Subclonal Heterogeneity

  CNA calls generated using the SomaticSniper-Battenberg-PhyloWGS from the CPC-GENE Subclonal Heterogeneity study

  Dataset EGAD00001004405

• SNV vcf files for CPCG Subclonal Heterogeneity

  SNV calls generated using the MuTect-TITAN-PhyloWGS from the CPC-GENE Subclonal Heterogeneity study

  Dataset EGAD00001004401

• 4C-seq data

  4C-seq data was generated for regions of interest to confirm enhancer-gene promoter interactions

  Dataset EGAD00001001847

• CNA vcf files for CPCG Subclonal Heterogeneity

  CNA calls generated using the MuTect-TITAN-PhyloWGS from the CPC-GENE Subclonal Heterogeneity study

  Dataset EGAD00001004404

• SNV vcf files for CPCG Subclonal Heterogeneity

  SNV calls generated using the SomaticSniper-Battenberg-PhyloWGS from the CPC-GENE Subclonal Heterogeneity study

  Dataset EGAD00001004402

• CNA vcf files for CPCG Subclonal Heterogeneity

  CNA calls generated using the MuTect-Battenberg-PhyloWGS from the CPC-GENE Subclonal Heterogeneity study

  Dataset EGAD00001004403

• GM18507 direct library preparation (DLP) single-cell genomes

  Microfluidic direct library preparation (DLP) single-cell whole-genome BAM files for near-diploid immortalized lymphoblastoid cell line GM18507.

  Dataset EGAD00001003148

• SNV vcf files for CPCG Subclonal Heterogeneity

  SNV calls generated using the MuTect-Battenberg-PhyloWGS from the CPC-GENE Subclonal Heterogeneity study

  Dataset EGAD00001004400

• BRIDGE Bleeding and Platelet Disorders

  Whole exome sequencing BAM files for samples from the BRIDGE Consortium with pathogenic or likely pathogenic variants on genes linked to bleeding or platelet disorders.

  Dataset EGAD00001001333

• Single-cell RNA-Seq (Chromium Next GEM Single Cell 3' Reagent Kits v3.1 from 10X Genomics )

  Human data for transcriptome (scRNA-Seq) in CD34+ B cell precursors.

  Dataset EGAD00001010907

• scRNA-seq

  This dataset gather scRNAseq data performed for MM.1S cell line in control and dex conditions at 4h and 24h

  Dataset EGAD00001011139

• RNA-seq dataset of CD34+ HSPCs from LRMDS patients

  To profile transcriptional alterations of HSPCs in LR-MDS patients, 7AAD−CD45+Lin-CD235a−CD34+ cells were isolated from healthy donors and LR-MDS patients for RNA sequencing.

  Dataset EGAD00001015771

• Long-read amplicon sequencing data per risk gene

  Each gene contains individual nanopore long-read amplicon sequencing FASTQ files for: individual (IND) 01-05 and brain regions: Brodmann Area (BA): 10, 24, 9, 46, caudate (CAUD), cerebellum (CBM) and temporal cortex (TCX).

  Dataset EGAD00001015350

• BLUEPRINT Gene expression profiles of human hematopoietic progenitors

  Gene expression was analyzed for stem/progenitor cell types and terminally differentiated cell types of the human blood lineage (HSC, MPP, CMP, GMP, CLP, MLP0, MLP1, MLP2, MLP3).

  Dataset EGAD00001002733

• Chromatin 3D interactions mediate genetic effects on gene expression (genotypes)

  This dataset contains the imputed genotypes for the gencord samples. Genotyping was done using Illumina OMNI2.5M. Imputation was done using SHAPEIT2/IMPUTE2 with 1000 genomes project phase 3 reference panel.

  Dataset EGAD00001004790

• Wilms Tumour organoid sequencing WGS (2019-09-05)

  This study investigates the genomic and transcriptomic characteristics of Wilm's tumour organoids . This dataset contains all the data available for this study on 2019-09-05.

  Dataset EGAD00001005312

• UCSF brain tumor data

  Single Nuclei ATAC seq data from GBM tumor samples. NovaSeq6000 was used for ATAC seq. The files uploaded are bam files created with grch38 reference.

  Dataset EGAD00001005314

• Target capture sequence for Primary-recurrent HCC study

  This dataset contains target capture sequence data from 255 samples, including 154 tumors and 101 normal samples. All the experiments were performed on Illumina HiSeq 2000 platform with raw reads stored in fastq format.

  Dataset EGAD00001005450

• Targeted sequencing of in vitro colonies - bulks (2020-05-05)

  In this study we will perform targeted sequencing on the bulk samples of in vitro colonies. This dataset contains all the data available for this study on 2020-05-05.

  Dataset EGAD00001006118

• WES raw data for study "Molecular and functional profiling of plasmablastic lymphoma"

  1 cell line and 123 patient samples including 38 normal (22 paired normal and 16 unpaired), 85 tumor-initial, FASTQ file types, Agilent SureSelect Human All Exon V6 Kit

  Dataset EGAD00001006400

• This committee is composed on individuals who have access to the data corresponding to this project: Gut microbiome modulates response to anti PD-1 immunotherapy in melanoma patients

  Dac EGAC00001000758

• Concepción Aguilera belongs to the Department of Biochemistry and Molecular Biology II from the University of Granada and is head of the molecular biology research group BIONIT (CTS-461).

  Dac EGAC00001000779

• GM

  metabolite levels measured by general metabolomics (Boston, USA) (the data is raw abundance. Mapping was applied on log10 transformed data)

  Dataset EGAD00010002148

• RNAseq and ATACseq on HGSC lines, pre- and post-treatment with an epigenetic drug

  This study looked to determine changes in gene expression and chromatin accessibility of five HGSC cell lines, following treatment with a novel epigenetic drug. The epigenetic drug, HKMTi-1-005, is a compound with dual activity against H3K27 and H3K9 methylation. The cell lines used were PEO1, PEO4, PEA2, OVCAR5, OVCAR8.

  Study EGAS50000000047

• Genetic Susceptibility and Biomarkers of Platinum-Related Toxicities

  The Platinum Study is an R01-funded, multicenter study of testicular cancer survivors that characterizes both long-term cisplatin-induced peripheral neuropathy (CisIPN) and cisplatin-associated ototoxicity, i.e., permanent, bilateral hearing loss. We collected data abstracted from medical records (e.g., cumulative cisplatin dose), conducted audiometric examinations, and administered self-report questionnaires, which included CisIPN symptoms.

  Study phs001621

• Washington University Coronary Artery Disease Study

  The genetic basis of coronary artery disease in individuals of non-European ancestry is largely unknown. The Washington University Coronary Artery Disease Study (WUCADS) recruited participants of non-European ancestry with and without coronary artery disease to address this question. Whole genome sequencing in WUCADS was performed at the McDonnell Genome Institute at Washington University.

  Study phs001227

• Determinants of Asthma Following RSV Bronchiolitis in Early Life

  The goal of the RSV Bronchiolitis in Early Life (RBEL) study is to determine how specific genetic, biologic, and immunologic characteristics interact to predispose individuals to develop asthma. Participants were carefully recruited by selecting a prospective cohort of 206 infants with severe respiratory syncytial virus (RSV) bronchiolitis who were at substantial risk of developing asthma.

  Study phs001009

• Loss of RREB1 in pancreatic beta cells reduces cellular insulin content and affects endocrine cell gene expression

  Genome-wide studies have uncovered multiple independent signals at the RREB1 locus associated with altered type 2 diabetes (T2D) risk and related glycemic traits. However, little is known about the function of the zinc finger transcription factor RREB1 in glucose homeostasis or how changes in its expression and/or function influence diabetes risk. We studied its function using three transcriptomic strategies, profiling gene expression when RREB1 is knocked out or knocked down in the Endo-betaH1 cell line, in addition to the in vitro differentiation in hiPSCs.

  Dataset EGAD00001009740

• Whole exome sequencing data of patients with resectable esophageal adenocarcinoma treated with neoadjuvant atezolizumab and chemoradiation (PERFECT)

  Whole exome sequencing was performed on matched tumor and normal DNA of patients with resectable esophageal adenocarcinoma that particpated in the PERFECT trial. The PERFECT trial is an open-label, single-arm, multicenter, phase II feasibility study (NCT03087864) investigating the safety and efficacy of atezolizumab, combined with neoadjuvant chemoradiotherapy and subsequent esophagectomy.

  Study EGAS00001006504

• Clonal Evolution of PPM1D Mutations in the Spectrum of Myeloid Disorders

  PPM1D, a central regulator of the DNA damage response, is commonly mutated in therapy-related clonal hematopoiesis (CH), acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS). PPM1D mutations have been shown to expand under selective pressure of DNA-damaging chemotherapy. However, whether PPM1D mutations promote the development of hematologic malignancies remains unclear.

  Study EGAS50000000840

• Paraganglioma Smart-Seq2 Single Nuclei Sequencing Data

  Paraganglioma is a rare neuroendocrine tumor that originates from chromaffin cells of the adrenal medulla or extra-adrenal paraganglia. This study aims to investigate the heterogeneity of this tumor and to identify potential biomarkers associated with its malignancy. To achieve this, we performed single-nucleus RNA sequencing of human paraganglioma samples using the SMART-Seq2 protocol.

  Study EGAS50000001184

• HNF1B induced three-dimentional genome analysis of patient-derived pancreas neoplasm organoids

  Three-dimensional (3D) genome structures are organized in a hierarchy of various module layers, including chromosome compartment, topologically associating domain, and enhancer-promoter loop. These modules are important in regulating cell type specific gene expression. Here, we aimed to elucidate how 3D genome organization is related to regulating subtype specific genes in pancreatic neoplasms.

  Study JGAS000514

• Genomic Data from Patients with Advanced Rare Cancers Treated with Pembrolizumab

  Rare cancers lack effective evidence-based treatments despite contributing substantially to cancer-related mortality. The goal of this study is to identify molecular biomarkers associated with response to pembrolizumab in patients with advanced rare cancers.This dataset includes genomic profiling generated from patients enrolled in an investigator-initiated phase II basket trial of pembrolizumab.

  Study EGAS50000001508

• Transcriptomic Data from Patients with Advanced Rare Cancers Treated with Pembrolizumab

  Rare cancers lack effective evidence-based treatments despite contributing substantially to cancer-related mortality. The goal of this study is to identify molecular biomarkers associated with response to pembrolizumab in patients with advanced rare cancers.This dataset includes transcriptomic profiling generated from patients enrolled in an investigator-initiated phase II basket trial of pembrolizumab.

  Study EGAS50000001509

• scRNA transcriptome and TCR sequencing data modeling treatment responses in eight renal cell carcinoma patient

  Single cell RNA sequencing and coupled TCR sequencing data generated following immunological treatments in patient-derived ex vivo tumor models. Dataset consist of 46 sequencing samples originating from eight individual patient-derived ex vivo models. Single cell RNA and TCR sequencing data is generated using 10X Genomics platform with 5´ sequencing. The submission contains 46 Fastq files where each patient-derived ex vivo model and it's transcriptomic response to specified treatment is a unique sequencing run. TCR sequencing runs are submitted as one file per individual model, gathering all the treatment conditions.

  Dataset EGAD50000001934

• Genomic evolution of pancreatic cancer at single-cell resolution

  This project assesses genomic evolution of pancreatic cancer using the Mission Bio Tapestri platform and Whole Exome Sequencing. The Mission Bio Tapestri platform is a single-cell DNA sequencing platform using a targeted gene panel to assess SNV/CNV. Several samples, including primary and metastatic tissue, were used to investigate changes at single-cell resolution.

  Study EGAS50000001351

• Multi-modal single-cell analysis of salivary glands from patients with Sjogren's syndrome

  Sjogren's syndrome (SS) is an autoimmune disease that causes salivary gland dysfunction due to immune-mediated destruction. In this study, we apply multi-modal single-cell technologies - single-cell RNA sequencing and T-cell receptor sequencing - to salivary gland lesions, aiming to uncover transcriptional signatures and TCR sequence linked to autoantibody profiles.

  Study JGAS000808

• Whole exome sequencing from early stage non-small cell lung cancer patients at MDACC

  The purpose of the study is to evaluate the mutational landscape and tumor mutational burden in tumor from patients with early stage non-small cell lung cancer. Mutational landscape was compared to the T cell repertoire to determine the relationship between somatic mutations and T cell response in early-stage NSCLC.

  Study EGAS00001004026

• Abnormal_foetal_development_exome_trios

  This project is to explore the contribution of de novo mutations to severe structural malformations diagnosed prenatally using ultrasound. These malformations include heart, CNS, renal and GI abnormalities. In this pilot project we aim to exome sequence 30 parent-foetus trios to ~50X mean coverage and identify de novo functional variants using an algorithm developed in the Hurles group

  Study EGAS00001000167

• Exome sequencing of stroke cases with good or bad recovery three months after stroke

  With the aim to identify rare genetic variation involved in stroke recovery, this is a pilot study on extreme phenotypes of good and bad recovery. Exome sequencing was performed on 41 and 49 samples in the bad and good recovery subset, respectively. Rare Variant association Analysis was performed on the exome sequencing results.

  Study EGAS00001003463

• Host genetic determinants of HIV infection

  Broadly, the objectives of the study are to characterize genetic variation in any gene or genomic region in South African populations, in the first place HIV. The purpose is to apply this knowledge to establish assays and gene signatures to test in disease-association studies, and to study underlying mechanisms of disease causation/severity.

  Study EGAS00001005245

• Defective mitophagy and enhanced oxidative stress dictate regulatory T cell impairment in autoimmunity

  Regulatory T cell (Treg) impairment is a common denominator of autoimmune pathologies. Despite the extensive characterization of Treg cell phenotype in autoimmunity, the molecular mechanisms underlying their deterioration remain ill defined. To investigate Treg dysfunction during autoimmunity we performed transcriptomic analysis of CD4+CD25highCD127- Treg cells from peripheral blood of patients with autoimmunity.

  Study EGAS00001004470

• Hydroxycarbamide effect on DNA methylation and gene expression in MPN patients

  Hydroxycarbamide (HC), is a cytoreductive drug frequently used to control cell blood counts in patients with myeloproliferative neoplasms (MPNs).To further explore the effects of HC in MPN patients, we performed DNA methylation and gene expression profiling of two differentially developed and clinically relevant cell types, both before and following HC exposure.

  Study EGAS00001004583

• Loss of RREB1 in pancreatic beta cells reduces cellular insulin content and affects endocrine cell gene expression

  Genome-wide studies have uncovered multiple independent signals at the RREB1 locus associated with altered type 2 diabetes risk and related glycemic traits. However, little is known about the function of the zinc finger transcription factor RREB1 in glucose homeostasis or how changes in its expression and/or function influences diabetes risk.

  Study EGAS00001006314

• Finding structural variation from the human skin fibroblast at the single-cell level

  Somatic structural variants (SVs) are widespread in cancer, but their impact on disease evolution is understudied due to a lack of methods to directly characterize their molecular consequences. We present a computational method, scNOVA, that integrates haplotype-resolved SV discovery with nucleosome occupancy analysis using Strand-seq, to functionally characterize SVs in single cells.

  Study EGAS00001006498

• PhIP-Seq data

  Inflammatory bowel diseases (IBD), e.g. Crohn’s disease (CD) and ulcerative colitis (UC), are chronic immune-mediated inflammatory diseases. A comprehensive overview of an IBD-specific antibody epitope repertoire is, however, lacking. We leveraged a high-throughput phage-displayed immunoprecipitation sequencing (PhIP-seq) workflow to identify antibodies against 344,000 antimicrobial, immune and food antigens in 497 IBD patients.

  Study EGAS00001007054

• Single-cell atlas of > 1.5 million PBMC with multi-layer omics data in Japanese

  Osaka Atlas of Immune Cells (OASIS) is multi-omics immune cell atlas from 235 Japanese including COVID-19 patients and healthy subjects. The 5’ single-cell transcriptomics data profiled over 1,500,000 peripheral blood mononuclear cells (PBMCs). OASIS links these single-cell transcriptomics data with host genetics, plasma proteomics, and metagenomics data.

  Study EGAS00001008016

• BRCA2, ATM, and CDK12 defects differentially shape prostate tumor driver genomics and clinical aggression

  This dataset contains all available targeted exon sequencing bam files from our study, "BRCA2, ATM, and CDK12 defects differentially shape prostate tumor driver genomics and clinical aggression". Patient identifiers are denoted by the first segment of the sample aliases (e.g. "P1"), and additional information is appended to reflect which sample is referenced. These include serial cfDNA samples ("-1", "-2", "-3", etc.), paired white blood cell or benign tissue control samples ("-Control"), or primary archival tissue samples derived from a diagnostic biopsy, prostatectomy, or transurethral resection of the prostate ("-Tissue"). All samples were sequenced using Illumina technology.

  Dataset EGAD00001006733

• RNA Expression in Diverse Donor Derived Dermal Fibroblasts Correlates with Reprogramming to Pluripotency

  The cohort used in this study includes 36 African American (17 female, 19 male) and 36 White American (19 female, 17 male) individuals. The total cohort has a median age of 32 years, with a range of 20-64 years. The African American cohort has a median age of 34, with a range of 21-52 years. The White American cohort has a median age of 31, with a range of 20-64 years. Primary dermal fibroblast lines were derived from skin biopsies obtained from adult individuals at the NIEHS under institutional review board approved protocol human subjects 10-E-0063, "Sample Collection Registry for Quality Control of Biological and Environmental Specimens and Assay Development and Testing protocol" (ClinicalTrials.gov #NCT01087307). All participants gave written informed consent for tissue donation. Donor sex, age, and ancestry were voluntarily self-reported. Fibroblast cells were reprogrammed via lentiviral transduction using six transcription factors contained in three plasmids (ADDGENE/PSIN4-EF2-N2L, ADDGENE/PSIN4-EF2-O2S and ADDGENE/PSIN4-CMV-K2M). Reprogramming efficiency was determined by alkaline phosphatase staining of triplicate 10cm reprogrammed dishes containing colonies, which were then scanned. The saved images were analyzed with ImageJ 1.51h (Wayne Rasband, National Institutes of Health, USA) to count colonies, using color threshold adjusted and binary converted images of each dish. Triplicate plates were averaged and reported as colony counts or percent reprogramming efficiency ((# of colonies/250,000) x100). The African American cohort had reprogramming efficiencies ranging from 0.06-1.37%, with a median of 0.655%. The White American cohort had reprogramming efficiencies ranging from 0.02-1.13%, with a median of 0.455%. Our goal was to define transcriptomic heterogeneity that could be contributing to differences in reprogramming efficiency between individuals and between groups. Total RNA was obtained from dermal fibroblasts and matched iPSCs. For each sample, 500 ng total RNA was used as input for preparation of whole transcriptome rRNA depleted libraries. An adapter-ligated library was prepared with the KAPA HyperPrep Kit (KAPA Biosystems, Wilmington, MA) using Bioo Scientific NEXTflex™ DNA Barcoded Adapters (Bioo Scientific, Austin, TX, USA) according to KAPA-provided protocol. Sequencing was performed using an Illumina HiSeq 2500 following Illumina-provided protocols for 2x150 bp paired-end sequencing. Each transcriptome was sequenced to a target depth of 125 million reads. The following mean raw reads were obtained: African American dermal fibroblasts= 129,571,450; White American dermal fibroblasts= 131,939,505; African American iPSCs= 132,501,335; White American iPSCs= 134,394,164. Raw reads were aligned to hg19 using the STAR alignment tool (https://github.com/alexdobin/STAR). The following mean aligned reads were obtained: African American dermal fibroblasts= 123,315,343; White American dermal fibroblasts= 125,178,035; African American iPSCs= 123,148,312; White American iPSCs= 123,886,992. Reprinted from L. C. Mackey et al., Epigenetic Enzymes, Age, and Ancestry Regulate the Efficiency of Human iPSC Reprogramming. Stem Cells 36, 1697-1708 (2018), with permission from Wiley. Reprinted from L. S. Bisogno et al., Ancestry-dependent gene expression correlates with reprogramming to pluripotency and multiple dynamic biological processes. Science Advances 6 (47) (2020) (PMID: 33219026), with permission from AAAS.

  Study phs002341