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• Neutrophil extracellular traps have auto-catabolic activity and produce mononucleosome-associated circulating DNA

  Study EGAS00001006759

• Mechanism of action and resistance to Trastuzumab Deruxtecan in patients with metastatic breast cancer

  Study EGAS00001007372

• RAGE engagement by SARS-CoV-2 enables monocyte infection and underlies COVID-19 severity

  Study EGAS00001007529

• Low-coverage whole-genome sequencing of cancer and healthy plasma circulating DNA

  Study EGAS00001007593

• DNA_methylation_pancreas

  DNA methylation of PDAC prescursors and normal pancreas cell population

  Dataset EGAD00010002386

• covarites

  covarites phenotypes, including gender (1=Female/0=Male), age and contraceptive

  Dataset EGAD00010002147

• Phenotypes_CaseFamilies

  Phenotypes from case families listed in medical records and used in analyses.

  Dataset EGAD00010002125

• REL-2017-07-2028

  HipSci - Bleeding and Platelet Disorders - Expression Array - July 2017

  Dataset EGAD00010001384

• Pacific_Islands

  Samples from eastern Polynesia, Taiwan, and Vanuatu

  Dataset EGAD00010001933

• Parallel sequencing of extrachromosomal circular DNAs and transcriptomes in single cancer cells

  Study EGAS00001007026

• Accessibility Over Transposable Elements Reveals Genetic Determinants of Stemness Properties in Normal and Leukemic Hematopoiesis

  Study EGAS00001007191

• Cell-free DNA sequencing data of healthy control, atrophic gastritis, and gastric cancer patients’ blood

  Study EGAS00001007308

• 20200819_EGA_Qld_Melanoma.biomarkers

  A study looking at Germline and Somatic biomarkers using WES data only

  Dataset EGAD00001006374

• DAC - Molecular patterns of response and treatment failure after frontline venetoclax combinations in older patients with AML

  Dac EGAC00001001461

• DAC: Whole-genome and transcriptome sequencing of primary cutaneous CD8+ aggressive epidermotropic cytotoxic T-cell lymphoma

  Dac EGAC00001001533

• Evaluating the immune response in treatment-naive hospitalised patients with influenza and COVID-19 Data Access Committee

  Dac EGAC00001002503

• DAC Unravelling the contribution of HIF pathway and its therapeutic potential in human AML leukemia-initiating cells

  Dac EGAC00001002509

• Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants

  Dac EGAC00001002558

• Aboriginal Genetics and Health Studies based at the Telethon Kids Institute, Perth, Western Australia

  Dac EGAC00001000261

• INCLIVA-CC-panel DAC

  Colon cancer targeted sequencing study contaning WBCs, primary tumor tissue and plasma samples

  Dac EGAC50000000061

• DAC Department of Neurology, TUM University Hospital, Technical University of Munich, School of Medicine and Health

  Dac EGAC00001003508

• Homologous recombination DNA repair deficiency and activity of PARP inhibition in primary triple negative breast cancer

  Study EGAS00001004190

• Multi-modal analysis of pediatric pilocytic astrocytomas reveals tumor location-associated cellular and transcriptional heterogeneity

  Study EGAS00001008187

• The genomic echoes of the last Green Sahara on the Fulani and Sahelian people

  Study EGAS00001007499

• Next Generation Sequencing Characterization of Hematopoietic Stem and Progenitors Cells in Human Systemic Lupus Eryhtematosus

  Study EGAS00001003679

• Genomic insight into the origins and dispersal of the Brazilian Coastal Natives

  Study EGAS00001004036

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

  Study EGAS00001004320

• Swarm Learning to identify COVID-19, tuberculosis and leukemia patients based on blood transcriptomes

  Study EGAS00001004502

• Single-cell genome-wide concurrent haplotyping and copy-number profiling through genotyping-by-sequencing

  Study EGAS00001005401

• hyper_hypo_methylation_proportion_Roadmap

  Proportion of hyper- and hypomethylated positions at Roadmap annotations. Data from 8 individuals.

  Dataset EGAD00010002416

• SNParray_BadBRCA

  Tumor and matched normal DNA profiling by SNP array

  Dataset EGAD00010002734

• microRNA

  Breast cancer tissue and controls

  Dataset EGAD00010001406

• oceoadapto_seanomad

  Genotyping data from Indonesian sea nomad and surrounding populations

  Dataset EGAD00010001200

• EGAD00010000130

  Cerebellar ataxia, mental retardation, and disequilibrium syndrome (CAMRQ) samples

  Dataset EGAD00010000130

• BCRC-ICGS (Bladder Cancer Research Centre, Institute of Cancer and Genomic Sciences, Univ. of Birmingham) Data Access Committee

  Dac EGAC00001001982

• Whole-exome sequencing of 47 microsatellites stable Early-onset sporadic rectal cancer (EOSRC) tumors and corresponding normal samples.

  Dac EGAC00001002502

• ecDNA amplification of MYC drives intratumor copy-number heterogeneity and adaptation to stress in PDAC

  Dac EGAC50000000070

• sncRNAseq human islets

  small non-coding RNA sequencing of 3 non diabetic donors and 3 donors with T2D.

  Dac EGAC50000000539

• Epigenome-wide methylation analysis of colorectal carcinoma, adenoma and normal tissue reveals novel biomarkers addressing unmet clinical needs

  Dac EGAC00001003510

• ILC RNAseq Curie Intitut Access Policy

  RNAseq data from ILC (n=168) and IC-NST/IDC (n=79)

  Dac EGAC50000000980

• Cancer Research UK Cambridge Institute

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

  Dac EGAC50000000683

• Molecular profiling reclassifies adult astroblastoma into known and clinically distinct tumor entities with frequent MAPK pathway alterations

  Study EGAS00001003798

• Molecular analysis of CRC in patients with Primary Sclerosing Cholangitis (PSC) and Inflammatory Bowel Disease (IBD)

  Study EGAS00001004497

• Impaired Humoral and Cellular Immunity after SARS-CoV2 BNT162b2 (Tozinameran) Prime-Boost Vaccination in Kidney Transplant Recipients

  Study EGAS00001005280

• Mutational impact in liver stem cells under precancerous alcoholic liver, NASH and PSC disease conditions

  Study EGAS00001005384

• Single-cell RNA-seq data from 3 HGSOC patient-derived organoids and corresponding tumor or ascites

  Study EGAS00001006246

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

  Study EGAS00001006905

• Lower respiratory tract single cell and neutrophil extracellular trap profiling of COVID-19-associated pulmonary aspergillosis

  Study EGAS00001007556

• NGS WGS Data - COMPASS

  Whole Genome Sequencing data from the COMPASS cohort and trial

  Dataset EGAD50000001584

• MCF10A 12h IL6 classical and trans-signaling

  Gene expression after cell culture, 12h IL6 stimulated

  Dataset EGAD00010001967

• MCF10A 24h IL6 classical and trans-signaling

  Gene expression after cell culture, 24h IL6 stimulated

  Dataset EGAD00010001965

• Strand-specific RNA Sequencing of paired initial and recurrent gliomas

  Dataset EGAD00001001613

• Lengthening and shortening of plasma DNA in hepatocellular carcinoma patients

  Dataset EGAD00001001275

• Altered neutrophil and granulopoiesis biology underlie a poor outcome sepsis endotype

  Study EGAS00001006283

• Epigenetic reprogramming shapes monocytes and heterologous T cell derived cytokine responses in BCG vaccination

  Study EGAS00001007498

• Leiomyosarcoma Cancer Transcriptome Sequencing

  RNA-Seq data (fastq raw read sequences) for French ICGC leiomyosarcoma cancer sequencing project, 78 samples representing 67 donors. Sequencing was performed on Illumina HiSeq. The libraries were then sequenced with a 2 x 75bp paired-end protocol to a minimum mean reads of 50 million.

  Dataset EGAD00001003192

• 20210708_EGA_Melanoma_mk2 WGS 570 donors

  Illumina platform whole genome sequencing data for matched tumour-normal DNA samples from 570 melanoma patients

  Dataset EGAD00001008798

• Melanoma PEACE Dataset

  Dataset for the initial melanoma PEACE paper in Cancer Discovery, March 2023.

  Dataset EGAD00001010877

• Differential Presence of Exons in Cell-Free DNA Reveals Different Patterns in Colorectal Cancer Between Metastatic and Non-Metastatic Patients

  Dac EGAC00001000749

• Multi-focal genomic dissection of synchronous primary and metastatic tissue from de novo metastatic prostate cancer - Data Access Committee

  Dac EGAC00001002905

• INCLIVA-CC-WES DAC

  Localised colon cancer WES study contaning WBCs, tissue and plasma samples at different time points

  Dac EGAC50000000156

• Genetic drivers define transcriptomic characteristics and clonal hierarchy within intratumoral heterogeneity in adult T-cell leukemia-lymphoma

  Study JGAS000301

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

  Study EGAS00001007145

• Two monogenic disorders masquerading as one: Severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss

  Study EGAS00001004176

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

  Study EGAS00001004758

• Spatiotemporal single cell transcriptomic analysis of human gut macrophages reveals multiple functional and niche-specific subsets

  Study EGAS00001005377

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

  Study EGAS00001005522

• Case Report: early contribution of germline and nevi genetic alterations to a rapidly-progressing Cutaneous Melanoma Patient

  Study EGAS00001006459

• Pleural_mesothelioma

  EPIC methylation data of pleural mesothelioma samples and healthy pleura samples

  Dataset EGAD00010002657

• Healthy_pleura

  EPIC methylation data of pleural mesothelioma samples and healthy pleura samples

  Dataset EGAD00010002656

• USA-Immuno

  USA Multiple Sclerosis cases and controls

  Dataset EGAD00010002043

• yemcha-U-2

  Yemen and Chad Genotyping

  Dataset EGAD00010001867

• REL-2017-07-2013

  HipSci - Bleeding and Platelet Disorders - Genotyping Array - July 2017

  Dataset EGAD00010001360

• MacTel_cohort_Omni5_genotypes

  MacTel Projet consortium case and control genotypes from Ilumina Omni5 chip

  Dataset EGAD00010001204

• Clinical and genetic analysis of a rare syndrome associated with neoteny

  Dataset EGAD00001003593

• Whole-exome and low-coverage whole genome sequencing data

  Dataset EGAD00001001391

• Whole-Genome Bisulfite Sequencing of a paired initial and recurrent glioma

  Dataset EGAD00001001616

• DONSON exome data

  Exome data from patients and parents with DONSON mutations

  Dataset EGAD00001003160

• Clinical data

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

  Dataset EGAD00001009414

• Unmatched WGS from bone marrow samples of 5 chr21 amplified blast phase myeloproliferative neoplasm patients

  We describe recurrent chromothripsis of chromosome 21 in a subset of patients in blast phase of a myeloproliferative neoplasm (BP-MPN), which alongside other structural variants leads to amplification of a region of chromosome 21 in ~25% of patients (‘chr21amp’). Chr21amp BP-MPN has a particularly aggressive and treatment-resistant phenotype. Here we provide high-depth whole genome sequencing (WGS) in five chr21amp BP-MPN cases, to a median coverage of 81x [range 77-86] and purity 79% [range 58-88%].

  Dataset EGAD00001011280

• Multi-Omic Analysis of Von Willebrand Factor Regulation in Endothelial Colony Forming Cells

  This study evaluated the multi-omic analysis of endothelial cells with a focus on von Willebrand factor regulation, and investigated aspects of endothelial regulation in the context of blood disorders. The data available at dbGaP consist of multi-omic analyses of these cells. 

  Study phs002731

• 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

• Whole exome sequencing of patients with esophageal squamous cell carcinoma receiving chemoradiotherapy

  We performed multi-region whole exome sequencing (WES) of pre-treatment and recurrent esophageal cancer receiving chemoradiotherapy in order to characterize clonal evolution of treatment resistant clones. Furthermore, additional solitary pre-treatment tumor samples were subjected to WES to detect biomarkers predicting clinical outcome.

  Study JGAS000227

• Assessment of genomic copy number alterations in breast cancer

  The aim of this study was to assess genomic copy number alterations in a panel of breast cancer cell lines. These data were used to identify common aberrations associated with breast cancer, and also to identify aberrations associated with response to therapeutic compounds.

  Study EGAS00000000059

• Long-read single-cell RNA-seq in COVID-19

  We report the first application of long-read single-cell RNA sequencing on nasopharyngeal swabs from COVID-19 patients and healthy controls to resolve transcript-level changes across cell types. Samples were collected from three patients with moderate COVID-19, six patients with critical COVID-19, and three healthy controls. Single-cell libraries were generated using the 10x Genomics Chromium 3' protocol, producing unfragmented cDNA. Libraries were sequenced on the Oxford Nanopore Technologies PromethION platform. Basecalling was performed with Guppy (v1.6), generating a single FASTQ file per sample.

  Dataset EGAD50000001836

• snRNA-seq BAM files from 10x Multiome profiling of human fetal liver hematopoiesis

  This dataset provides snRNA-seq BAM files from a single-nucleus multiome study of 53 human fetal liver samples (5–18 post-conception weeks). Live CD45+CD235- cells were sorted from dissociated tissue, and isolated nuclei were processed using the Chromium Next GEM Single Cell Multiome ATAC + Gene Expression kit. Raw sequencing data were processed and aligned to GRCh38-2020-A-2.0.0 using Cell Ranger ARC v2.0.2.

  Dataset EGAD50000002337

• BCC HHI-ICI combination therapy

  Data of advanced basal cell carcinoma patients receiving hedgehog-inhibitor and immune checkpoint-inhibitor combination treatment. The single-cell RNA-sequencing data was generated via the Parse Biosciences platform from PBMC samples of 10 patients at 4 four timepoints each. The spatial transcriptomics dataset was generated using the 10x Visium platform (+CITE-seq) and contains altogether 10 biopsies at different timepoints during treatment from 3 patients. The processed matrices with the spatial images can be downloaded from: https://zenodo.org/records/17814765

  Dataset EGAD50000002134

• RNAseq data from 112 samples of benign or malignant ovarian tumours

  This dataset contains ~1.2 TB RNA sequencing data in fastq format from 112 samples of fresh-frozen ovarian tumours from a total of 111 women, two samples being replicates. The samples were collected from the U-CAN collection at Uppsala Biobank and include both benign (n = 18) and malignant (n = 94) tumours. The RNA sequencing samples were sequenced using paired-end sequencing (2x150 bp) on an Illumina NovaSeq 6000 instrument at the SciLifeLab National Genomics Infrastructure (NGI) in Uppsala.

  Dataset EGAD50000001521

• Whole scRNA-seq from pre frontal cortex patient biopsy

  The single- cell RNA-seq prefrontal cortex sample was selected from a cohort of patients with hydrocephalus ≥18 years of age planning to undergo CSF diversion surgery either with a ventriculoperitoneal shunt placement (VP) or ventriculocisternostomy (VCS). The tissue was dissociated followed by red cell and debris removal and counting of the cells to be sequenced with (scRNA-seq; 10x Genomics kit v2). After dissociation only non neuronal cells were retrieved.

  Dataset EGAD50000001542

• Low-coverage Single-cell Whole Genome Sequencing Data from Paired Meningioma Samples

  This dataset comprises low-coverage (~0.5X) whole genome sequencing data from 179 single cells isolated from paired meningioma samples (88 cells from initial grade II and 91 cells from recurrent grade III tumor from the same patient). The single-cell libraries were constructed using Primary Template Amplification and ResolveDNA protocol, with libraries subsequently sequenced on NextSeq 1000 using 2x150bp paired-end reads targeting 8M reads per cell. This dataset includes the sequencing data in Fastq format.

  Dataset EGAD50000001254

• 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

• Impact of allogeneic umbilical-cord derived mesenchymal stromal cells on B-cell scRNAseq in patients with systemic lupus erythematosus

  The impact of MSC(UC) on peripheral B cells from Systemic Lupus Erythematosus (SLE) patients was studied by 10X scRNAseq. This scRNAseq study encompassed 3 SLE patients at 3 time points: before or after (1 month, and 3 months) MSC injection in order to analyze B cell subsets and their DEG. The aim of this study was to observe the potential changes of B cell subsets after MSC(UC) injection in SLE patients.

  Dataset EGAD50000000471

• Phase II Trial with Correlative Genomic Analysis of Durvalumab plus Pazopanib Combination in Patients with Advanced Soft Tissue Sarcomas

  This study includes an open-label, phase 2 study to determine the activity of the anti-VEGF receptor tyrosine-kinase inhibitor, pazopanib, combined with the anti-PD-L1 immune checkpoint inhibitor, durvalumab, in unselected advanced sarcomas. We conducted whole exome and transcriptomic sequencing with pre-treatment tissue biopsy to correlate clinical outcomes with molecular and genomic biomarkers to identify patients who would most likely benefit from the combination treatment.

  Dataset EGAD50000000114

• Non-coding mutations drive persistence of a founder pre-leukemic clone which initiates late relapse in T-ALL

  T-ALL relapse usually occurs early but can occur much later, which has been suggested to represent a de novo leukemia. However, we conclusively demonstrate late relapse can evolve from a pre-leukemic subclone harbouring a non-coding mutation that evades initial chemotherapy. Data include 19 WGS samples: - 5 cases with presentation, relapse and remission (germline) samples - 2 cases with presentation and relapse samples, but not remission (germline)

  Dataset EGAD50000000174

• 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

• RNA sequencing data of pediatric B-other acute lymphoblastic leukemia (set 4)

  The dataset includes RNA sequencing FASTQ files from diagnostic tumor samples of 10 B-other ALL patients (ALLT-389, ALLT-391, ALLT-393, ALLK-101, ALLK-109, ALLK-110, ALLK-113, ALLK-115, ALLK-123, ALLK-124). TruSeq Stranded Total RNA Library Prep (Illumina) kit was used in library preparation, and Novogene's internal method was utilized in rRNA removal. The diagnostic tumor samples were sequenced using Illumina Novaseq 6000, and the target sequencing depth was 21 Gb per sample.

  Dataset EGAD50000002599

• 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

• Assessment of genomic copy number alterations in breast cancer

  The aim of this study was to assess genomic copy number alterations in a panel of breast cancer cell lines. These data were used to identify common aberrations associated with breast cancer, and also to identify aberrations associated with response to therapeutic compounds.

  Study EGAS00001000585

• 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

• High-resolution analyses of human sperm dynamic methylome reveals thousands of novel age-related epigenetic alterations

  Age-dependent modifications of the germ cells epigenome remain poorly understood. Our objective was to assess the DNA methylation profile of human spermatozoa during aging. A cohort study was designed to investigate the effects of age and fertility status on sperm DNA methylation.

  Study EGAS00001004168