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• Roifman_DAC

  This Data Access Committee (DAC) will be set up to review applications, and render decisions for requests submitted to EGA to access data deposited into ega-box-1592 by Dr. Chaim Roifman at the Hospital for Sick Children in Toronto, Canada. Contact: Dr. Chaim Roifman. email:chaim.roifman@sickkids.ca

  Dac EGAC50000000243

• Bulk RNA sequencing of ALS patients

  We performed RNA sequencing to screen for alternative splicing alterations in patients with ALS to identify those linked to ALS pathology.

  Study JGAS000851

• Chromatin accessibility profiling of primary human hepatocytes

  The chromatin accessibility profiling of primary human hepatocytes using Assay for Transposase-Accessible Chromatin with high-throughput sequencing (ATAC-seq).

  Study EGAS50000001230

• Mutation detection of T follicular helper cell lymphomas

  Whole-exome sequencing data for study of tumor heterogeneity and immune-evasive microenvironment in T follicular helper cell lymphomas

  Study EGAS50000000276

• Multi-omics characterisation of immune cells in Long Covid

  We generated 10X Multiomics (paired RNA+ATAC) for Long Covid patients with up to 14 months follow-up.

  Study EGAS50000000142

• Indonesian Genome Diversity Project 2, genotyping data

  This study reports Illumina Omni 2.5M genotyping chip data for 48 individuals from Aru, Mentawai, New Guinea and Sumba islands.

  Study EGAS00001003670

• snRNAseq prostate cancer

  single-nucleus RNA seq characterization of human fresh frozen prostate cancer samples and non-malignant controls for the same patients. Biopsies were sectioned in 100 micron thick sections, adjacent to those used for spatial transcriptomics.

  Dataset EGAD50000001633

• DNAmet

  DNAmet analysis of olfactory mucosa (OM) cells derived from cognitively healthy and individuals with AD exposed to traffic-related ultrafine particles (UFPs) for 72h in submerged cultures. The UFPs used for exposures were: A0 and A20. Exposures were compared to the corresponding blank samples.

  Dataset EGAD50000001531

• Dataset for "HPV integration induces gene fusions" (ONT)

  ONT whole-genome sequencing data for "HPV integration induces gene fusions" . We sequenced five HPV-positive head and neck cancer samples using Oxford Nanopore platform. The sequences was submitted in fastq format.

  Dataset EGAD50000001302

• Young-Boost Whole Exome Sequencing (WES)

  Datasets associated with Young Boost Trial for Breast Cancer patients. Whole Exome Sequencing (WES) performed on 109 Samples (75 Tumor and 34 Normal). WES was performed to identify potential predictive biomarkers for treatment response.

  Dataset EGAD50000001171

• RNA-seq data for Heterogeneity of IKZF1 genomic alterations and risk of relapse in childhood BALL

  RNA-seq data for 14 samples with B-cell acute lymphoblastic leukemia

  Dataset EGAD50000000151

• Peru.mg.maf.subsetEGA

  Genotypes generated for study investigating signals of selection in Peruvians from three ecological regions. 96 genotypes in plink format after QC filtering (missingness per individual, per variant and minor allele freq). See publication for more details on QC filtering.

  Dataset EGAD00010002261

• ChIP-Seq data for the paper titled "Orthotopic Patient-Derived Xenografts of Pediatric Solid Tumors"

  ChIP-Seq data for the paper titled "Orthotopic Patient-Derived Xenografts of Pediatric Solid Tumors"

  Dataset EGAD00001003432

• DATA FILES FOR SJPhLike-RNASeq

  DATA FILES FOR SJPhLike-RNASeq

  Dataset EGAD00001001016

• ICGC Benchmark 1 (CLL)

  Raw fastq files from WGS sequencing of CLL and matching blood normal for the ICGC Techval Benchmark1 study. Sequence data was provided to multiple centers for independent analysis and comparison.

  Dataset EGAD00001001858

• Dataset-linking-WGS-and-WES-files-from-EGAS00001004276-via-README-for-new-study-EGAS00001005327

  This dataset contains 538 Tumor and Control WGS and WES files for samples already submitted and published in study EGAS00001004276

  Dataset EGAD00001007817

• Single Cell Genome Sequence for DLP+ library A96141A

  Single Cell Genome Sequence for triple negative breast cancer patient-derived xenograft SA604 passage 8 on DLP+ library A96141A

  Dataset EGAD00001009777

• Dataset for atypical teratoid rhabdoid tumors transcriptome sequencing

  This dataset contains transcriptome sequencing for 12 samples from atypical teratoid rhabdoid tumors (ATRTs). The sequencing was performed on Illumina HiSeq 4000. The sequencing was always paired.

  Dataset EGAD00001015542

• Dataset for Transcriptomic sequencing data for neuroblastoma tumor samples

  Dataset Transcriptomic sequencing data of 42 neuroblastoma tumor samples. The sequencing was performed on Illumina HiSeq 2000 and Illumina HiSeq 4000. The sequencing was always paired.

  Dataset EGAD00001015812

• Primary Prostate Tumor Tissue DNA Methylation Profiles

  The study cohort includes 525 Caucasian and African American prostate cancer (PCa) patients who underwent radical prostatectomy (RP) as primary therapy for clinically localized adenocarcinoma of the prostate. These patients were previously enrolled in one of two population-based studies: 1) men 40-64 years of age, diagnosed between January 1993 and December 1996; and, 2) men 35-74 years of age, diagnosed between January 2002 and December 2005. Gleason grade and sum, diagnostic PSA, and pathological tumor stage were obtained from the SEER cancer registry. Formalin-fixed paraffin-embedded prostate tumor tissue blocks were obtained from RP specimens and used to make hematoxalin and eosin stained slides, which were reviewed by pathologists to confirm the presence/location of adenocarcinoma. For each patient two 1-mm tumor tissue cores from the dominant lesion that were enriched with >=75% tumor cells were taken for DNA purification. The RecoverAll Total Nucleic Acid Isolation Kit (Ambion/Applied Biosciences, Austin, TX) was used to extract DNA, which was then quantified (PicoGreen), aliquoted onto 96-well plates and shipped to Illumina for DNA methylation profiling using the Infinium® HumanMethylation450 BeadChip.

  Study phs001921

• Development of molecular targeted therapy for small cell lung cancer by comprehensive genome analysis

  Aims: Identifying new therapeutic targets of small cell lung cancer (SCLC), genome-wide mutation analysis has been performed. Methods: Genomic DNA was extracted from formalin-fixed or methanol-fixed tissue samples. 71 Mb of DNA fragments containing whole coding exons were concentrated using SureSelect Human All Exon V4+UTRs Kit (Agilent Technologies) followed by 100-bp paired end sequencing by HiSeq 2000 (Illumina). Participants/Materials: 51 of 1042 cases of pathologically diagnosed small seen lung cancer that were registered to National Cancer Hospital East Lung Cancer Database in 1992-2012, and which surgically resected or biopsy samples were suitable for DNA extraction for further analyses.

  Study JGAS000037

• Cholesterol homeostasis and lipid raft dynamics at the basis of tumor-induced immune dysfunction in chronic lymphocytic leukemia

  Autologous T-cell therapies show limited efficacy in chronic lymphocytic leukemia (CLL), where acquired immune dysfunction prevails. In CLL, disturbed mitochondrial metabolism has been linked to defective T-cell activation and proliferation. Recent research suggests that lipid metabolism regulates mitochondrial function and differentiation in T cells, yet its role in CLL remains unexplored. This comprehensive study compares T-cell lipid metabolism in CLL patients and healthy donors, revealing critical dependence on exogenous cholesterol for human T-cell expansion following TCR-mediated activation. Using multi-omics and functional assays, we found that T cells present in viably frozen samples of patients with CLL (CLL T cells) showed impaired adaptation to cholesterol deprivation and inadequate upregulation of key lipid metabolism transcription factors. CLL T cells exhibited altered lipid storage, with increased triacylglycerols and decreased cholesterol, and inefficient fatty acid oxidation (FAO). Functional consequences of reduced FAO in T cells were studied using samples from patients with inherent FAO disorders. Reduced FAO was associated with lower T-cell activation but did not affect proliferation. This implicates low cholesterol levels as a primary factor limiting T-cell proliferation in CLL. Consequently, CLL T cells displayed fewer and less clustered lipid rafts, potentially explaining the impaired immune synapse formation observed in these patients. Our findings highlight significant disruptions in lipid metabolism as drivers of functional deficiencies in CLL T cells, underscoring the pivotal role of cholesterol in T-cell proliferation. This study suggests that modulating cholesterol metabolism could enhance T-cell function in CLL, presenting novel immunotherapeutic approaches to improve outcome in this challenging disease.

  Dac EGAC50000000556

• DAC for EGA study: "ctDNA residual disease analyses during perioperative nivolumab or nivolumab plus ipilimumab in resectable diffuse pleural mesothelioma"

  This DAC regulates access to the whole-exome sequence data for the study "ctDNA residual disease analyses during perioperative nivolumab or nivolumab plus ipilimumab in resectable diffuse pleural mesothelioma".

  Dac EGAC50000000706

• Central Africa whole genome sequencing (rainforest hunter-gatherers and neighboring populations)

  High-coverage (>30X) whole genome data (FASTQ) for 29 central African rainforest hunter-gatherer individuals (from five populations) and for 20 central African rainforest hunter-gatherer neighbor individuals (from four populations).

  Dataset EGAD50000001560

• vaccgene_1000G_MKK_hla

  VaccGene HLA imputation panel variants and HLA allele calls for all individuals across all tested sequence platforms and countries, and the high quality direct genotypes for these individuals (with genotype data available) across the MHC in PLINK format

  Dataset EGAD00010002577

• BLUEPRINT: WGBS-seq for monocytes and neutrophils

  WGBS-seq for monocytes and neutrophils

  Dataset EGAD00001000673

• WGS DATA FILES FOR SJPhLike

  WGS DATA FILES FOR SJPhLike

  Dataset EGAD00001000976

• Dataset for whole exome sequencing of 113 pairs of tumor and normal DNA samples along with 8 cell lines

  Dataset for whole exome sequencing of 113 pairs of tumor and normal DNA samples along with 8 cell lines.

  Dataset EGAD00001001006

• McGill EMC Release 4 for assay "ATAC-seq"

  McGill EMC Release 4 for assay "ATAC-seq": Sequencing of transposase-accessible chromatin as described by Buenrostro et al. (Nature Methods 10, 1213?1218 (2013) doi:10.1038/nmeth.2688)

  Dataset EGAD00001001300

• GBM-ZEB1: RNA sequencing of parental tumors used for cell line generation

  This dataset contains RNA sequencing raw data from four parental tumors that were used for classification of gene expression subtypes (Verhaak, Cancer Cell 2010) using ssGSEA.

  Dataset EGAD00001001627

• WGS files for Mullighan_GL_reALL

  WGS files for Mullighan_GL_reALL paper titled "Mutational landscape and patterns of clonal evolution in relapsed pediatric acute lymphoblastic leukemia"

  Dataset EGAD00001005506

• WXS files for Mullighan_GL_reALL

  WXS files for Mullighan_GL_reALL paper titled "Mutational landscape and patterns of clonal evolution in relapsed pediatric acute lymphoblastic leukemia"

  Dataset EGAD00001005509

• Hospital for Sick Children 2020 Pediatric Low-Grade Glioma RNA and Targeted DNA Sequencing

  Whole transcriptome and targeted dna sequencing (Ampliseq) of pediatric low-grade glioma samples at the Hospital for Sick Children

  Dataset EGAD00001005987

• RNA-seq data from paired tumour and germline samples from mesothelioma patients for study EGAS00001005196

  RNA-seq data from paired tumour and germline samples from mesothelioma patients for study EGAS00001005196

  Dataset EGAD00001007874

• RNA data for Glioblastoma (EGAS00001003953, H016)

  RNA data for human glioblastoma patients, EGAS00001003953. 64 human samples, 2 cell lines (LN229, ZH487).

  Dataset EGAD00001006547

• sWGS for genome-wide copy number profiling

  Shallow whole-genome sequencing (sWGS) data for the identification of somatic copy number alterations (SCNA) and the estimation of tumor fractions in plasma DNA of metastatic colorectal cancer patients (mCRC).

  Dataset EGAD00001006384

• Hi-C for Junvenile Pilocytic Astrocytomas

  5 Hi-C datasets (4 JPA and 1 LGG). Hi-C data for the remaining 5 JPAs used in our paper as well as all controls have been uploaded to EGA under EGAS00001005476.

  Dataset EGAD00001009044

• Dataset for transcriptome sequencing of forebrain organoids from Lissencephaly patients

  This dataset contains transcriptome sequencing for 16 samples of forebrain organoids from Lissencephaly patients. The sequencing was performed on Illumina NextSeq 6000 . The sequencing was always paired.

  Dataset EGAD00001015688

• Nanopore sequencing of AML and control samples

  Three AML samples from patients with mutations in DNMT3A, IDH2, TET2, and a control sample of whole genome amplified DNA.

  Dataset EGAD50000001692

• RNA sequencing of AVANT and CALGB trial patient samples

  Transcriptional profiling via high-throughput sequencing was performed on a set of patients from the AVANT and CALGB trials

  Dataset EGAD50000001752

• Whole-genome and transcriptome sequencing of a patient with extrapancreatic acinar cell carcinoma

  Dataset EGAD00001006023

• Angiosarcoma follow up study

  A bespoke targeted pulldown experiment will be performed on patients with Angiosarcoma. the resulting products will be sequenced to determine the prevalence of previously found mutations in these patients.

  Dataset EGAD00001000620

• ICGC Korean Breast Cancer Project

  A comprehensive characterisation and analysis of human breast cancers through whole-genome sequencing.

  Dataset EGAD00001001322

• Panel sequencing data of IMPACT2 patients

  Patient samples were sequenced by Foundation Medicine, Inc. (Cambridge, MA), using FoundationOne CDx, a comprehensive NGS-based in vitro diagnostic device designed to capture cancer genes.

  Dataset EGAD00001006887

• GCAT| WGS BAM V1

  This dataset include BAM files of 808 samples from GCAT cohort. Technology used HiSeq 4000, read length 150 bp, inner mate distance 300 bp. For each sample the paired -ends are generated in separated files. Each FASTQ is splitted in multiple LANEs and grouped by the Multiplex index.

  Dataset EGAD00001008202

• IL-17 Signaling in Human iPSC-derived Midbrain Neurons in Parkinson's Disease

  To determine IL-17-induced global transcriptome changes in midbrain neurons derived from induced pluripotent stem cells (iPSC) from three sporadic Parkinson's disease (PD) patients and three age- and sex-machted controls, deep RNA sequencing (RNA-Seq) of IL-17-treated and untreated PD and control iPSC-dderived midbrain neurons was performed. Total RNA was isolated from untreated and IL-17-treated cells with the TruSeq RNA Sample Preparation Kit v2 (Illumina). RNA libraries were quantified using the KAPA SYBR FAST ABI Prism Library Quantification Kit (Kapa Biosystems) and cluster generation was performed on the cBot with the TruSeq SR Cluster Kit v3 (Illumina). The sequencing run was performed on a HiSeq 1000 instrument (Illumina) using the indexed, 50 cycles single read (SR) protocol and the TruSeq SBS v3 Kit (Illumina). Image analysis and base calling resulted in .bcl files that were then converted into .fastQ files by the CASAVA1.8.2 software. FastQ files were aligned to the human genome (hg19) using STAR.and annotated with gencode.v19. DESeq2 was used to determine differential expression. Criteria to determine significantly dysregulated genes were as follows: adjusted p-value below 0.05 and log2FC (fold change) of greater than one. Only genes with a mean expression value of greater than one RPKM (reads per kilobase per million mapped reads) throughout the dataset were considered. Control and PD samples were analyzed as two independent datasets. Upon IL-17 treatment only 17 genes were found to be dysregulated in controls but 125 genes were dysregulated in iPSC-derived midbrain neurons from PD patients. The 125 IL-17-dependent genes in PD iPSC-derived neurons separated the treated from untreated PD samples using an unsupervised, hierarchical clustering applying an Euclidean distance metric. More detailed study information can be found in Sommer A, Maxreiter F, Krach F, Fadler T, Grosch J, Maroni M, Graef D, Eberhardt E, Riemenschneider MJ, Yeo GW, Kohl Z, Xiang W, Gage FH, Winkler J, Prots I, Winner B. Th17 Lymphocytes Induce Neuronal Cell Death in a Human iPSC-Based Model of Parkinson's Disease. Cell Stem Cell. 2018 Jul 5;23(1):123-131.e6. doi: 10.1016/j.stem.2018.06.015. PMID: 29979986

  Study phs001686

• Clinical and neuroimaging study on preclinical Alzheimer's disease.

  This clinical study aims to discriminate MCI individuals at risk for development of Alzheimer dementia, as well as preclinical AD without clinical manifestations.

  Study JGAS000272

• Zimbabwe Mendelian Disorders Genomics DAC

  Data Access Committee responsible for reviewing and approving access requests to human genomic data generated from individuals with suspected Mendelian disorders. The DAC ensures ethical use of genomic data in accordance with institutional, national, and international guidelines, protecting participant privacy while enabling responsible data sharing for research purposes.

  Dac EGAC50000000963

• Exome_sequencing_of_Non_syndromic_Congenital_Heart_Defects

  Exome sequencing of ~1,800 patients with non-syndromic Congenical Heart Defects (CHD) to identify genes enriched for damaging rare variants that increase risk of CHD

  Study EGAS00001002522

• WGS of ecDNA neuroblastoma cell lines

  ecDNA reconstruction for MYCN-amplified neuroblastoma cell lines using shallow long-read whole-genome sequencing (MinION platform, WGS mean-coverage 5-10X).

  Study EGAS50000000349