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• Multiregion Whole-Exome Sequencing Uncovers the Genetic Evolution and Mutational Heterogeneity of Early-Stage Metastatic Melanoma.

  Study EGAS00001004320

• Candidate Gene Case Control Study of Human African Trypanosomiasis in the Democratic Republic of Congo

  Study EGAS00001004365

• The FF bladder signature conservation set

  Dataset EGAD00001000833

• The paired FF/FFPE bladder set

  Dataset EGAD00001000832

• The paired FF/FFPE prostate set

  Dataset EGAD00001000830

• EGAD00000000019

  840 families where both parents have been genotyped together with the child with severe malaria

  Dataset EGAD00000000019

• EGAD00000000020

  685 families where both parents have been genotyped together with the child with severe malaria

  Dataset EGAD00000000020

• Single-nuclei multiomic analysis of KOLF2.1J human induced pluripotent stem cells-derived differentiated dopaminergic neurons

  Datasets consists of 12 samples of nuclei from hIPSCs differentiated optimized protocols for generating dopaminergic neurons. 6 single nuclei (RNA-ATAC) samples of XMAS protocol with cells collected at days 0,11,16,28,42 and 56 after differentiation. 3 snRNA-seq samples from AMS protocol of cells collected at days 14,16 and 28 after differentiation and 3 snRNA-seq samples with AMS protocol until day 14 grafted and grafts processed after 5 months grafting.

  Dataset EGAD50000002054

• Sequencing data for oesophageal and related samples - OACs release 4 (RNA)

  Dataset EGAD00001004021

• Leukemia WGS data

  Whole-genome sequencing data from 38 leukemia patients and 12 leukemia cell lines; Containing 100 fastq files; Two files for each sample.

  Dataset EGAD00001008659

• CITEseq data

  CITEseq data of CLL patients receiving VEN treatment for resistance study

  Dataset EGAD00001008366

• AWI-GEN 2 Microbiome Dataset

  AWI-Gen Phase 2 Microbiome Project for 1820 samples.

  Dataset EGAD00001015449

• Single Genome Jakun Sequencing Dataset

  This dataset contains the sequencing data of a single Jakun Individual from Malaysia

  Dac EGAC50000000454

• Cancer Research UK Cambridge Institute

  A department of the University of Cambridge and Cancer Research UK funded Institute

  Dac EGAC50000000683

• Overexpression of the miR-17-92 cluster in colorectal adenoma organoids induces a carcinoma-like genotype

  Study EGAS00001005949

• Mechanism of action and resistance to Trastuzumab Deruxtecan in patients with metastatic breast cancer: the DAISY trial

  Study EGAS00001006905

• NGS WGS Data - COMPASS

  Whole Genome Sequencing data from the COMPASS cohort and trial

  Dataset EGAD50000001584

• phenotype

  2619 individuals with visual contour perception phenotype scores, in the form of averaged accuracy

  Dataset EGAD00010001729

• CPCG-BRCA-ARRAY

  Raw Array data from the CPCGene BRCA study

  Dataset EGAD00010001196

• ARGO-Larissa GWAS

  The ARGO-Larissa GWAS.

  Dataset EGAD00010000883

• MPNST

  These are only the whole exome sequences

  Dataset EGAD00001001031

• CB

  CB: Aligned sequences used in the error modeling study

  Dataset EGAD00001005261

• The BIOS Consortium: Biobank-based Integrative Omics Studies

  Dac EGAC00001000277

• Profiled samples in the study "Chromatin activation profiling of stereotyped chronic lymphocytic leukemias reveals a subset #8 specific signature"

  Dac EGAC00001002787

• The Sys4MS cohort: a prospective cohort of patients with Multiple Sclerosis and omics

  Study EGAS00001007145

• KDM4A regulates the maternal-to-zygotic transition by protecting broad H3K4me3 domains from H3K9me3 invasion in oocytes

  Study EGAS00001004220

• The transition from normal lung anatomy to minimal and established fibrosis in Idiopathic Pulmonary Fibrosis

  Study EGAS00001004758

• Targeting the Epichaperome As an Effective Precision Medicine Approach in a Novel PML-SYK Fusion Acute Myeloid Leukemia

  Study EGAS00001004992

• The Genetic Basis of Preeclampsia in an Andean Population Adapted to High Altitude

  Study EGAS00001004625

• The cell free DNA methylome of primary and metastatic prostate tumors

  Study EGAS00001005522

• Genotype

  PLINK file of the Japanese population

  Dataset EGAD00010002427

• TGCT_Phase1_Controls

  UK TGCT control samples using the Infinium 1.2M array

  Dataset EGAD00010001243

• The paired FF/FFPE colon set, RNA-Seq

  Dataset EGAD00001000831

• The genomic landscape of GCs

  whole-genome sequencing of 168 paired GCs.

  Study EGAS00001007355

• Clinical data

  Clinical data including the treatment arm, HER2 status Pre- and Post-NAT.

  Dataset EGAD00001009414

• Molecular Characterization of Clinical Renal Tumors

  We performed comprehensive molecular profiling of renal tumors, including whole exome sequencing and transcriptome sequencing, derived from patient samples. This project additionally explores mechanisms of response and resistance to existing and emerging therapies in this disease, as well as mechanisms of tumor evolution in the context of treatment.

  Study phs001018

• CMV infection during pregnancy

  This study aims to characterize the transcriptional diversity, clonal composition, and viral target antigens of CMV-specific CD8 T cells among pregnant women with different anti-CMV serological patterns. Single-cell RNA sequencing (scRNA-seq) combined with MHC-peptide dextramers were performed using CD8 T cells from pregnant donors.

  Study JGAS000728

• An imputation reference panel of HLA variants in Japanese

  We constructed a human leukocyte antigen (HLA) imputation reference panel of Japanese ancestry, which includes genotype data of HLA alleles and single nucleotide polymorphisms (SNPs) in the major histocompatibility complex (MHC) region of 908 healthy Japanese controls. Variant locations are based on NCBI build 36.

  Study JGAS000018

• single-cell RNA sequencing and RNA sequencing of normal uterine cervix

  We designed this study to identify molecular markers of HPV18 early promoter. In this study, we developed patient-derived organoids from squamous-columular junction of normal uterine cervix and infected HPV18 into those organoids to elucidate the molecular biological characteristics of HPV18-activated cells.

  Study JGAS000640

• PHRT study of longitudinal sampling in ovarian cancer

  High-grade serous ovarian cancer presents significant challenges due to its poor prognosis and high heterogeneity, both of which complicate treatment responses. This project aims to understand intra-patient tumor evolution by investigating different sampling sites (primary and metastatic) at the time of diagnosis and during disease recurrence.

  Study EGAS50000001424

• Whole-Exome Sequencing in Mexican Patients with Testicular Germ Cell Tumors

  In this study, we performed whole-exome sequencing in 40 clinically well-characterized Mexican patients with testicular germ cell tumors. Paired tumor and peripheral blood samples were analyzed to characterize the genomic landscape, including both single nucleotide variants (SNVs) and copy number variations (CNVs).

  Study EGAS50000001721

• IDH- and H3-wildtype high-grade gliomas in teenagers and young adults

  Whole exome sequencing of high grade gliomas occurring in teenagers and young adults between the ages of 13 and 30. This study combines methylation array profiling, whole exome sequencing and fusion panels sequencing to provide and integrated diagnosis of tumours in this age group.

  Study EGAS50000000641

• Investigating differential diagnostic and prognostic biomarkers in primary cutaneous follicle center lymphoma and follicular lymphoma using low-coverage whole-genome sequencing

  In this study, we analyzed 28 primary cutaneous follicle center lymphoma samples from 20 patients and compared the copy number profiles to a cohort of diagnostic samples of 64 nodal follicular lymphoma patients using low-coverage whole genome sequencing (lcWGS).

  Study EGAS50000000141

• Single-nucleus RNA sequencing (snRNA-seq) of seven human diffuse midline glioma (DMG) patient tumour samples.

  This dataset comprises 7 paired (14 total) FASTQ files of single-nucleus RNA sequencing (snRNA-seq) data generated from seven human diffuse midline glioma (DMG) patient tumour samples. snRNA-seq libraries were generated using the 10X Chromium Controller and Chromium Next GEM Single Cell 3’ kit version 3.1 in line with the manufacturer’s instructions. Generated libraries were sequenced on an Illumina NextSeq 2000 (P3 XLEAP-SBS chemistry) at targeted 20,000 reads per nucleus.

  Dataset EGAD50000002514

• snRNA-seq on patient tumours

  snRNA-seq performed on patient tumours (n = 6 patients, one biopsy sample each sequenced) using the 10x technology. Single nuclei were acquired from six frozen mCRPC biopsies (4 lymph node, 2 liver metastases) obtained from consenting patients treated at the Royal Marsden Hospital between 2018 and 2023 under an institutional review board approved research protocol (Research Ethics Committee approval number: 04/Q0801/60). All six patients had previously received androgen-receptor signalling inhibitor(s) and five of six patients had previously received taxane(s).

  Dataset EGAD50000000874

• WES data from tumors and matching controls collected from 11 UTSW translocation renal cell carcinoma (tRCC) patients.

  This study investigates translocation renal cell carcinoma (tRCC) to identify mutations contributing to tRCC progression. The analysis relies on Whole Exome Sequencing (WES) data obtained from 11 patients treated at University of Texas Southwestern Medical Center (UTSW) affiliated hospitals, including Parkland Hospital and Children’s Medical Center. Tumor samples and their corresponding normal DNA were sequenced using the Illumina platform.

  Dataset EGAD50000000171

• Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma

  Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma

  Dataset EGAD00001000001

• HipSci_RNASEQ_PID

  The HipSci project brings together diverse constituents in genomics, proteomics, cell biology and clinical genetics to create a UK national iPS cell resource and use it to carry out cellular genetic studies. In this sub-study we perform RNAseq on iPS lines from Platelet and bleeding disorders patients

  Study EGAS00001001990

• Human_primary_melanoma_project

  Mutational burden and profiles to be studied in approx. 500 human primary melanomas with matched normal samples, part of the Leeds melanoma cohort. New custom design targeted capture panel covering melanoma-specific copy number alterations, promoter mutations, gene fusions, coding genes, HLA regions and IFNg/JAK/STAT pathway genes.

  Study EGAS00001002409

• Succession Of Transiently Active Tumour-Initiating Cell Clones inHuman Pancreatic Cancer

  To elucidate whether newly acquired genetic alterations during serial transplantation of patient derived primary pancreatic cancer cultures contribute to the observed clonal dynamics in vivo, all coding genes of two patient derived primary cultures and derived genetically marked serial xenografts (1°/2°/3°) were sequenced.

  Study EGAS00001000882

• Genomic analysis of Japanese gastric cancer (345 gastric cancers of NCC)

  As a contribution to the International Cancer Genome Consortium, whole exome sequencing of 345 Japanese gastric cancer (345 gastric cancers of NCC) with various histological subtypes have been conducted. This study aims to identify unique and common driver genes and molecular subtypes in Japanese gastric cancer.

  Study EGAS00001002884

• Profiling of Peritoneal Metastases from Gastric Adenocarcinoma Identified Molecular Subtypes

  Peritoneal carcinomatosis (PC) occurs frequently in gastric adenocarcinoma (GAC) patients and confers poor prognosis. Multiplex profiling of primary GACs has been insightful but the underpinnings of PC’s development/progression remain largely unknown. Here we characterized exome/transcriptome/immune landscapes of PC cells from 43 patients.

  Study EGAS00001003180

• Cancer-Associated Mutations in Endometriosis without Cancer

  Endometriosis, defined as the presence of ectopic endometrial stroma and epithelium, affects approximately 10% of reproductive-age women and can cause pelvic pain and infertility. Endometriotic lesions are considered to be benign inflammatory lesions but have cancerlike features such as local invasion and resistance to apoptosis

  Study EGAS00001003576

• HipSci_RNASEQ_Usher syndrome and congenital eye defects

  The HipSci project brings together diverse constituents in genomics, proteomics, cell biology and clinical genetics to create a UK national iPS cell resource and use it to carry out cellular genetic studies. In this sub-study we perform RNAseq on iPS lines from Usher syndrome and congenital eye defects.

  Study EGAS00001001997

• Multiplexed quantification of four neuroblastoma DNA targets in a single droplet digital PCR reaction

  Evaluation of quadruplex ddPCR-based copy number assessment in blood plasma samples paired with genomic DNA from the corresponding primary neuroblastoma from three patients and comparison with copy numbers determined by duplex and triplex ddPCR and re-analyzed from whole-exome sequencing (WES) data.

  Study EGAS00001004275

• Whole exome sequencing of 76 individuals with familial atrial fibrillation

  We investigated genetic background of familial and early onset atrial fibrillation (AF) with the aim of identify genes involved in atrial fibrillation pathology and are highly predisposing risk factors. We performed whole exome sequencing on 24 families where three or more family members suffered from AF.

  Study EGAS00001003207

• Single Cell MK and HSC sequencing

  In the current understanding of adult bone marrow hematopoiesis, megakaryocytes (MKs) originate from cells immuno-phenotypically indistinguishable from hematopoietic stem cells (HSCs), bypassing intermediate progenitors. Here, we use single cell RNA sequencing to characterize HSCs and MKs from human bone marrow, to investigate MK lineage commitment and maturation.

  Study EGAS00001004844

• Whole genome sequencing data of normal/tumors pairs from 9 patients with uterine or ovarian carcinosarcoma.

  This dataset provides whole genome sequencing data of normal/tumors pairs from 9 patients with uterine or ovarian carcinosarcoma using the HiSeq 2000 sequencing system. It includes 27 samples (9 normals, 16 uterine tumors and 2 ovarian tumors). Through separate whole genome sequencing of carcinomatous and sarcomatoid components, we analyse and compare the genomic alterations of these components.

  Dataset EGAD00001003755

• Congenital mesoblastic nephroma and infantile fibrosarcoma

  The genetic basis of many rare childhood cancers remains unknown. These include a spectrum of infant soft tissue tumors without canonical gene fusions, encompassing congenital mesoblastic nephroma (CMN) of the kidney and infantile fibrosarcoma (IFS). Here, we integrated whole genome and transcriptome sequencing and identified diagnostic markers and novel therapeutic strategies.

  Dataset EGAD00001003885

• Indonesian Genome Diversity Project

  High-coverage whole genome sequences were collected to study patterns of genomic variation across the broad geography of Indonesia and New Guinea. This region has experienced an extremely complex demographic history, including repeated bouts of admixture with archaic and modern human groups. We have sequenced the genomes of 161 individuals from 14 populations spanning this geographical region, from communities close to mainland Asia through to New Guinea.

  Dataset EGAD00001004156

• Genetic heterogeneity and dynamics of transcriptional subtypes in matched primary and recurrent head and neck squamous cell carcinomas

  To get a better understanding of different HNSCC subtypes, whole-exome (matched tumor-normal paits) and whole transcriptome sequencing to to elucidate underlying molecular processes. Here, we present the matched whole-exome sequencing data from 28 patients (normal tissue, tumor tissue, relapse).

  Study EGAS00001005005

• PBMC gene expression profiles in diet treated celiac disease upon oral gluten challenge

  This dataset contains PBMC genome-wide RNAseq reads from 21 samples and one expression matrix file after alignment and aggregation of the 21 samples. The samples are case-control drawn on day 6 from long-term GFD treated CD patients after 3 day oral gluten challenge, on day 0 from patient controls on long-term GFD treatment, and on day 6 from 4 week GFD treated healthy controls after 3 day oral gluten challenge.

  Dataset EGAD00001006655

• Longitudinal Single-Cell Profiling in Refractory Mantle Cell Lymphoma

  we performed sequential scRNA-seq of 21 specimens (discovery cohort) collected at baseline, during treatment, and/or at disease remission/progression from 3 ibrutinib-responsive (R) patients (Pt-V, C and D) and 2 non-responsive (NR) patients (Pt-B and E). In addition, the PBMC samples from two healthy donors (N1 and N2) were included as the normal controls.

  Dataset EGAD00001006994

• Molecular profiling of DLBCL patients treated in the PETAL trial

  Shallow whole genome sequencing and targeted sequencing of DLBCL patients treated in the PETAL trial

  Dataset EGAD00001008386

• scRNA-seq dataset of patient with immune dysregulation

  scRNA-seq dataset on a patient (P_IKZF2-het) presenting with immune dysregulation. This dataset contains raw and processed files from scRNA-seq performed on samples using the 10x Genomics Chromium Controller with the Chromium Single Cell 3′ Reagent Kit (v3 chemistry). There are three paired-end (75 bp) fastq files (I1, R1, R2) and three processed files generated with 10x Genomics Cell Ranger v3.0.2 software against GRCh38 human reference transcriptome (scrnaseq_P_IKZF2-het_barcodes.tsv.gz, scrnaseq_P_IKZF2-het_features.tsv.gz, scrnaseq_P_IKZF2-het_matrix.mtx.gz).

  Dataset EGAD00001008443

• pan-cancer plasma cfRNA

  Dataset contains mRNA capture sequencing data from plasma of 266 different human donors. The first, pan-cancer, cohort covers 25 high-grade to metastatic cancer types (8 cancer patients per type) and a control group (8 healthy donors). The validation cohort comprises additional plasma samples from ovarian, prostate and uterine cancer patients (12 per type) as well as additional samples from controls (22 new and 8 repeated). Samples were sequenced on a NovaSeq 6000 and are provided in FASTQ format.

  Dataset EGAD00001009713

• RNA sequencing of in vitro generated suppressive myeloid cells using parental and Sialidase expressing A549 cancer cell lines

  Fresh peripheral blood mononuclear cells of four human donors were cultured together with either lung adenocarcinoma A549 cancer cells or A549-expressing H1N1 Sialidase cancer cells. These treatments induced the differentiation of donor cells into immunosuppressive MDSC-like cells, which were further subjected to bulk RNA sequencing. RNA-seq TruSeq libraries were generated from polyA-enriched mRNA isolated from the samples, and sequenced in paired-end mode on 4 lanes of an Illumina NextSeq 500 flow-cell

  Dataset EGAD00001012437

• Breast_Cancer_Somatic_Genetics_Study_

  We propose to definitively characterise the somatic genetics of ER+ve, HER2-ve breast cancer through generation of comprehensive catalogues of somatic mutations in 500 cases by high coverage genome sequencing coupled with integrated transcriptomic and methylation analyses.

  Study EGAS00001000195

• Array-based DNA methylation analysis in blood from patients with Snijders Blok–Campeau syndrome (CHD3)

  DNA methylation array data generated using the Illumina Infinium MethylationEPIC BeadChip (v1.0 and v2.0) from whole-blood DNA of patients with Snijders Blok–Campeau syndrome (ORPHA:599082). Raw IDAT files were generated to identify differentially methylated regions in typical and atypical patients.

  Study EGAS00001008414

• Copy Number Abnormalities of Chr1 in Multiple Myeloma at the Single Cell Level

  Single-cell whole genome sequencing (scWGS) provides a tool to gain deeper insights into the clonal relationships of Chr1 copy number changes. Here, we study Chr1 copy number alteration (CNA) using Direct library preparation plus (DLP+), a scalable scWGS platform implemented by image-based object recognition, and open-source computational methods. We report scWGS of 2,046 cells with 400-650 single-cells per patient from 5 Multiple Myeloma patients selected from our biobank with chr1q gains identified by iFISH using a CKS1B probe (IRB S21-01218 and I19-01384)

  Study phs004109

• Genome and transcriptome sequence data from a metastatic carcinoma of the lung patient

  Genome and transcriptome sequence data from a metastatic carcinoma of the lung patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001002983

• Genome and transcriptome sequence data from a adenocarcinoma of the lung patient

  Genome and transcriptome sequence data from a adenocarcinoma of the lung patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001002985

• Genome and transcriptome sequence data from a carcinosarcoma of the uterus patient

  Genome and transcriptome sequence data from a carcinosarcoma of the uterus patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001002995

• Single cell transcriptomes of childhood renal tumours

  This data set contains single cell transcriptomes generated using the chromium 10X platform from both fresh cells and nuclei. The samples measured are derived from children with Wilms tumour, Clear Cell Sarcoma of the Kidney (CCSK), or Malignant Rhabdoid Tumours.

  Dataset EGAD00001007572

• 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

• Exploring the driver events of eccrine poromas and porocarcinomas: A retrospective, cross-institutional study of 90 cases

  Eccrine poroma (EP) and porocarcinoma (EPC) are rare benign and malignant adnexal neoplasms of the terminal sweat gland duct, respectively. Both can arise de novo, however, EPCs can also arise from a pre-existing EP. To-date, genetic investigation of these tumors has involved studies with small sample sizes and/or limited analyses. To comprehensively compare the driver events and mutational landscape of these tumors, we performed a retrospective multi-institutional whole-exome sequencing and RNA sequencing study on the largest cohort of EPs and EPCs to-date (n=90). We uncovered novel events and delineated different pathways of tumorigenesis underlying these tumors, with EPs driven largely by fusion genes, and EPCs driven largely by somatic mutations, with rare YAP1 and frequent PAK gene novel fusions.

  Dataset EGAD00001015376

• Exploring the driver events of eccrine poromas and porocarcinomas: A retrospective, cross-institutional study of 90 cases

  Eccrine poroma (EP) and porocarcinoma (EPC) are rare benign and malignant adnexal neoplasms of the terminal sweat gland duct, respectively. Both can arise de novo, however, EPCs can also arise from a pre-existing EP. To-date, genetic investigation of these tumors has involved studies with small sample sizes and/or limited analyses. To comprehensively compare the driver events and mutational landscape of these tumors, we performed a retrospective multi-institutional whole-exome sequencing and RNA sequencing study on the largest cohort of EPs and EPCs to-date (n=90). We uncovered novel events and delineated different pathways of tumorigenesis underlying these tumors, with EPs driven largely by fusion genes, and EPCs driven largely by somatic mutations, with rare YAP1 and frequent PAK gene novel fusions.

  Dataset EGAD00001015377

• Exploring the driver events of eccrine poromas and porocarcinomas: A retrospective, cross-institutional study of 90 cases

  Eccrine poroma (EP) and porocarcinoma (EPC) are rare benign and malignant adnexal neoplasms of the terminal sweat gland duct, respectively. Both can arise de novo, however, EPCs can also arise from a pre-existing EP. To-date, genetic investigation of these tumors has involved studies with small sample sizes and/or limited analyses. To comprehensively compare the driver events and mutational landscape of these tumors, we performed a retrospective multi-institutional whole-exome sequencing and RNA sequencing study on the largest cohort of EPs and EPCs to-date (n=90). We uncovered novel events and delineated different pathways of tumorigenesis underlying these tumors, with EPs driven largely by fusion genes, and EPCs driven largely by somatic mutations, with rare YAP1 and frequent PAK gene novel fusions.

  Dataset EGAD00001015378

• Exploring the driver events of eccrine poromas and porocarcinomas: A retrospective, cross-institutional study of 90 cases

  Eccrine poroma (EP) and porocarcinoma (EPC) are rare benign and malignant adnexal neoplasms of the terminal sweat gland duct, respectively. Both can arise de novo, however, EPCs can also arise from a pre-existing EP. To-date, genetic investigation of these tumors has involved studies with small sample sizes and/or limited analyses. To comprehensively compare the driver events and mutational landscape of these tumors, we performed a retrospective multi-institutional whole-exome sequencing and RNA sequencing study on the largest cohort of EPs and EPCs to-date (n=90). We uncovered novel events and delineated different pathways of tumorigenesis underlying these tumors, with EPs driven largely by fusion genes, and EPCs driven largely by somatic mutations, with rare YAP1 and frequent PAK gene novel fusions.

  Dataset EGAD00001015379

• Altered Interactions between Circulating and Tissue-Resident CD8 T Cells with the Colonic Mucosa Define Checkpoint Inhibitor Colitis

  Therapeutic immune checkpoint blockade has revolutionized oncology, but treatments are limited by immune-related adverse events, including checkpoint inhibitor colitis (irColitis). To define molecular drivers of irColitis, we profiled ~300,000 cells from the colonic mucosa and blood of 29 patients and controls. Patients with irColitis showed expanded mucosal Tregs (regulatory T cells), CD8 tissue-resident memory T cells expressing CXCL13 and Th17 gene programs, and recirculating ITGB2 CD8 T cells. Cytotoxic CD4 T cells, recirculating CD8 T cells, and endothelial cells expressing hypoxia gene programs were further expanded in colitis associated with anti-PD-1/CTLA-4 compared to in the presence of anti-PD-1 therapy. Luminal epithelial cells in irColitis patients expressed PCSK9, PD-L1, and interferon-induced signatures associated with apoptosis, increased cell turnover, and malabsorption.Raw data files from both colon and PBMCs from irColitis patients and controls have been provided to dbGaP. Count matrices derived from raw RNA-Seq data will be available through GEO accession GSE206301.

  Study phs003418

• DATA ACCESS WITH REGARDS TO EXOME-WIDE ASSOCIATION ANALYSIS OF CORONARY ARTERY DISEASE IN THE KINGDOM OF SAUDI ARABIA POPULATION

  Dac EGAC00001000420

• Novel de novo pathogenic variant in the GNAI1 as a cause of severe disorders of intellectual development with autistic features

  Dac EGAC00001002145

• Novel de novo pathogenic variant in the GNAI1 as a cause of severe disorders of intellectual development with autistic features

  Dac EGAC00001002151

• UKB_Genotyped 2018

  The UK BioBank directly genotyped dataset 2018

  Dataset EGAD00010001497

• HCEMM - Semmelweis University Molecular Oncohematology Research Group DAC

  Data Access Committee of the HCEMM - Semmelweis University Molecular Oncohematology Research Group

  Dac EGAC50000000091

• HPRU in Respiratory Infections DAC

  DAC to oversee data owned from the HPRU in Respiratory Infections at Imperial College London

  Dac EGAC50000000307

• Kerl Pediatric Oncology Münster

  Kerl lab at the Department of Pediatric Hematology and Oncology, University Hospital Münster, Münster, Germany

  Dac EGAC50000000765

• TFTAK Data Access Committee

  The TFTAK Data Access Committee (TFTAK DAC) oversees access to data generated by TFTAK research projects.

  Dac EGAC50000000885

• Clonal dynamics of normal hepatocyte expansions in homeostatic human livers and their association with the biliary epithelium

  Study EGAS00001005539

• The evolutionary dynamics of human colorectal cancer using single-gland spatial multi-omic profiling of DNA, RNA and chromatin.

  Study EGAS00001005827

• The evolutionary dynamics of human colorectal cancer using single-gland spatial multi-omic profiling of DNA, RNA and chromatin.

  Study EGAS00001006088

• The evolutionary dynamics of human colorectal cancer using single-gland spatial multi-omic profiling of DNA, RNA and chromatin.

  Study EGAS00001006122

• Whole Exome Sequencing of Schizophrenia cases and controls performed at the Broad Institute on a cohort from Bristol, UK

  Study EGAS00001006274

• Molecular determinants of outcomes in relapsed mantle cell lymphoma treated with ibrutinib or temsirolimus in the MCL3001 (RAY) trial

  Study EGAS00001006342

• iMED DNA methylation data

  This dataset contains the DNA methylation data of 439 samples from iMED cohort

  Dataset EGAD00010002765

• GSA_2023_hg19

  Genopyting of 45 individuals using the Illumina Global Screening Array-24 v3

  Dataset EGAD00010002707

• GSA_2020_hg38

  Genopyting of 65 individuals using the Illumina Global Screening Array-24 v2

  Dataset EGAD00010002706

• GSA_2022_hg19

  Genopyting of 45 individuals using the Illumina Global Screening Array-24 v3

  Dataset EGAD00010002705

• The study of response to EGFR Blockade in Colorectal Cancer

  Dataset EGAD00001001628

• The study of response to EGFR Blockade in Colorectal Cancer

  Dataset EGAD00001001674