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• Dataset to study clonal evolution in TCF3:PBX1 patient SJE2A067 using scWGS-seq

  scWGS-seq of flow sorted blast and normal cells from SJE2A067 with 78 high quality cells sequenced (73 blast and 5 normal)

  Dataset EGAD00001011330

• Detection of human brain cancers using genomic and immune cell characterization of cerebrospinal fluid through CSF-BAM

  Detection of human brain cancers using genomic and immune cell characterization of cerebrospinal fluid through CSF-BAM

  Dataset EGAD00001015645

• Very Low Tumor Mutation Burden Identifies Inflamed Recurrent Glioblastomas Responsive to Cancer Immunotherapy

  A subset of available tumors (with matched blood) from patients enrolled in a phase I clinical trial testing a recombinant poliovirus, published by Desjardins et al. NEJM 2018 (PMID:29943666), were analyzed by whole exome sequencing and RNA-seq. It was discovered that low tumor mutation burden correlated with survival outcome, and also discovered that low tumor mutation burden correlated with higher inflammatory gene signatures by RNA-seq.

  Study phs002270

• Discovery of genetic factors associated with thiopurine-induced severe adverse events

  Despite NUDT15 variants showing significant association with thiopurine-induced adverse events (AEs) in Asians, it remains unclear whether additional genetic variants should be tested to predict AEs. To clarify it, we performed a genome-wide association study to discover additional variants associated with thiopurine-induced severe AEs, alopecia and leukopenia. GWASs of these AEs were performed with 1221 Japanese patients with inflammatory bowel disease using population-optimized genotyping array and imputation.

  Study JGAS000661

• VCF dataset of Colorectal Cancer Synthetic genomes

  This dataset contains genomic variants data from VCF files of four patients synthetically generated in the EOSC4Cancer project

  Dataset EGAD50000000314

• cfRRBS data plasma healthy donor

  cfRRBS data produced from the cfDNA in plasma isolated from healthy, adult donors.

  Dataset EGAD50000000553

• VCF file, post sample QC

  This VCF contains the full sequence data post QC. This consists of 41,911 individuals. All polymorphic sites are present in this VCF.

  Dataset EGAD00001000623

• The Ashkenazi Genome Consortium: Phase I

  Whole genome, high coverage, sequencing of 128 Ashkenazi Jewish controls

  Dataset EGAD00001000781

• Cloning of the breakpoint of a novel translocation associated with T-acute lymphoblastic leukaemia

  Single case of T-ALL carrying t(4;6), a novel translocation.

  Dataset EGAD00001002193

• 46 VCF files of glioma patient 2021

  the source data in VCF format of 46 patients primary malignant glioma cohort in Chinese population

  Dataset EGAD00001008115

• Bulk RNA-seq osteosarcoma

  We profiled 23 patient osteosarcoma tumor samples by bulk RNA-seq. The raw fastqs are provided.

  Dataset EGAD00001011371

• DAC_for_study__PDFs_RNA-seq_scRNA/TCR-seq

  Study: Pharmacologic inhibition of nonsense-mediated mRNA decay enhances anti-tumour immunity, R. Vendramin et al (2025), Cell Data details: Patient-derived fragments (PDFs) RNA-seq and scRNA/TCR-seq data; treatment: SMG1 inhibition (small molecule inhibitors) and knockdown of SMG1 (siRNA)

  Dac EGAC50000000725

• Aplastic anemia

  Clonal hematopoiesis was investigated in patients with aplastic anemia using next-generation sequencing and single-nucleotide polymorphism (SNP) array-based karyotyping.

  Study EGAS00001001153

• ENCORE__New_Targets_for_Effective_Combination_Therapies_in_Tumors_with_Unmet_Medical_Need

  This study utilises 2G-CRISPR screens to identify effective target combinations in KRAS-mutant colorectal and triple-negative breast cancer cell lines.

  Study EGAS00001004775

• Whole exome sequencing of 12 NSCLC samples from 4 patients at MDACC

  Multi-region WES from 4 NSCLC patients, totaling 12 tumor samples and 4 matched control samples.

  Study EGAS00001005829

• sWGS of cfDNA from plasma and urine

  Shallow WGS data from cell-free DNA extracted from plasma and urine (stored under different storage conditions)

  Dataset EGAD50000001587

• Cancer Genome Scanning in Plasma: Detection of Tumor-Associated Copy Number Aberrations, Single-Nucleotide Variants, and Tumoral Heterogeneity by Massively Parallel Sequencing

  Cancer Genome Scanning in Plasma: Detection of Tumor-Associated Copy Number Aberrations, Single-Nucleotide Variants, and Tumoral Heterogeneity by Massively Parallel Sequencing

  Dataset EGAD00001000308

• Gastric cancer RNA-seq data

  strand-specific RNA-seq data from 19 gastric tumors and their adjacent normal tissues, plus 16 gastric cancer cell lines, one normal gastric cell line, and 3 normal stomach RNAs

  Dataset EGAD00001003448

• RNA-Sequencing data of Human Acute Myleloid Leukemia Stem Cells

  RNA-Sequencing of 27 functionally validated LSC and blast fractions from 9 AML patients. Three healthy hematopoietic stem and progenitor cells from age-matched controls.

  Dataset EGAD00001006112

• Bulk and single cell RNA-seq analysis of keratinocytes and human skin

  106 bulk RNA-seq samples of primary human keratinocytes 8 single cell RNA-seq samples of human epidermis

  Dataset EGAD00001005998

• RNA-seq of frontal post-mortem human brain tissue

  RNA-sequencing dataset of post-mortem human brain tissue of FTD patients with mutations in GRN, MAPT and C9orf72 and healthy controls.

  Dataset EGAD00001008014

• PCa-LINES: rRNA-minus RNA-seq of PCa cell-lines (VCaP & PC346c) and 5 additional patient samples

  PCa-LINES: rRNA-minus RNA-seq of PCa cell-lines (VCaP & PC346c) and 4 additional patient samples

  Dataset EGAD00001006366

• TGL49_HBC CHARM panel

  Targeted panel sequencing of hereditary cancer syndrome-associated genes (TP53, BRCA1, BRCA2, PALB2, MLH1, MSH2, MSH6, PMS2, EPCAM, and APC) in plasma and buffy coat samples from healthy control patients.

  Dataset EGAD00001010001

• Profiling human first-trimester neurodevelopment using scATAC-seq and multiomics

  116 single cell ATAC runs and 23 single cell multiome (ATAC+RNA) runs on various brain regions during human first-trimester development.

  Dataset EGAD00001011300

• Single-cell RNA sequencing of 43 BALF samples from CAPA and COVID-19 patients

  Single-cell RNA sequencing of 43 bronchoalveolar lavage fluid (BALF) samples from 15 CAPA and 22 COVID-19 mechanically ventilated patients.

  Dataset EGAD00001011342

• PBAT sequencing of human embryonic stem cells

  To assess the DNA methylation landscape of naïve human embryonic stem cells derived from ERKi or control blastocysts using PXGL or UXGL media.

  Dac EGAC50000000606

• LEMA WES files

  This dataset contains WES bam/bai files associated with 133 patients as part of the LEMA Study

  Dataset EGAD50000001311

• ACUITI BAM files

  This dataset contains WES bam/bai files associated with 51 patients as part of the ACUITI Study

  Dataset EGAD50000001401

• Data used in "BaTwa" populations from Zambia retain ancestry of past hunter-gatherer groups

  BaTwa genotype data using the H3Africa array.

  Dataset EGAD50000000555

• Myeloproliferative Neoplasms (MPN) Exome Validation Study

  Experiments using targeted pulldown methods will be sequenced to validate findings in the exomes of patients with Myeloproliferative Neoplasms (MPN).

  Dataset EGAD00001000619

• GCLJ RNA-Seq data

  RNA-Seq data from 6 Giant Cell Lesions of the Jaw (GCLJ) samples.

  Dataset EGAD00001004320

• BASIS Genome Validation Study

  Bespoke validation experiments will be performed on ER+ Breast Cancer cases to confirm the presence of mutations found in whole genome sequencing.

  Dataset EGAD00001000661

• 300-Obese cohort gut microbiome data

  300-Obese cohort, Nijmegen, the Netherlands. Dataset contains gut microbiome data generated by metagenomic sequencing.

  Dataset EGAD00001005083

• GWAS_HPI_Lund

  Genotyping data (Imputed) from human pancreatic islets from 191 donors from Lund that were analysed as part of the Inspire consortium.

  Dataset EGAD00001005521

• Plasma methylome of metastatic prostate cancer

  The dataset contains plasma DNA methylation data derived from metastatic prostate cancer patients.

  Dataset EGAD00001005433

• Covacta OLINK LOD

  Explore 1536 dataset from serum of patients enrolled in the COVACTA trial. This dataset includes limit of detection values provided by Olink.

  Dataset EGAD00001011161

• Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity

  Targeted genetic sequencing was performed on a 41-year-old female with metaplastic breast cancer (MBC) and neurofibromatosis type I (NF1). A custom panel capturing 279 cancer related genes was used to identify a germline pathogenic SNV in NF1, as well several other somatic alterations.

  Study phs001566

• Single-cell RNA-seq, single-cell TCR-seq, single-cell ATAC-seq, and CITE-seq of human tonsillar CD4+ T cells

  To describe human tonsillar CD4+ T cells, especially IL10+ Foxp3- follicular CD4+ T cells (Tfr1, T follicular regulatory type 1), human tonsillar CD4+ T cells were analyzed with single-cell RNA-seq, single-cell TCR-seq, single-cell ATAC-seq, and CITE-seq.

  Study JGAS000805

• 41 fibroblast RNAseq samples of pediatric patients with childhood epilepsy and developmental delay

  We used RNA sequencing of patient fibroblasts to find a genetic diagnosis in patients with exome-negative childhood epilepsy. RNA extracted from 41 individuals' cultured fibroblasts (passage 3-6) was collected and sequenced at a depth of 90-110 paired reads per sample.

  Study EGAS50000000792

• Enhanced reduced representation bisulfite sequencing (eRRBS) on 45 multiple myeloma samples and 3 normal plasma cell

  Enhanced reduced representation bisulfite sequencing (eRRBS) on 45 multiple myeloma samples and 3 normal plasma cell. Enhanced reduced representation bisulfite sequencing (eRRBS) on 45 multiple myeloma samples and 3 normal plasma cell. Libraries were sequenced on a HiSeqTM4000 Illumina machine using 75bp paired-end reads

  Dataset EGAD00001007822

• Whole exome sequencing of paired primary tumor (PT) and hepatic metastasis (HM) of PDAC

  This data set contains pair-end raw whole exome sequencing data of matched primary tumors (PT) and hepatic metastases (HM) of pancreatic ductal adenocarcinoma (PDAC). Eight tumor adjacent normal tissues (N) were also evaluated. In total, there are 30 specimens generated from 11 PDAC cases, including 8 PT-HM-N trios and 3 PT-HM paires.

  Dataset EGAD00001006599

• African Demographic History Study Using Illumina 1M Array Data

  These data were used as part of a study to characterize genomic diversity in Africa, population substructure, and evolutionary history.

  Study phs001780

• African Demographic History Study Based on WGS Data

  These data were used as part of a study to characterize genomic diversity in Africa, population substructure, and evolutionary history.

  Study phs003096

• Multimodal single-cell analyses of peripheral blood mononuclear cells in COVID-19 patients

  10x scRNA and 10X scVDJ analyses were performed using PBMCs collected from COVID-19 patients in Japan.

  Study JGAS000546

• Analysis of Multiparametric MR imaging and tumor tissue sampling to identify response and acquired resistance to HIF-2 inhibition in patients with advanced clear cell renal cell carcinoma enrolled in a phase 1, multiple-dose, dose-escalation trial of PT2385, a HIF-2alpha inhibitor

  Study EGAS00001003506

• Exome_sequencing_of_short_SGA_children_with_IGF_I_and_insulin_resistance

  Exome sequencing of short SGA children with IGF-I and insulin resistance. Collaboration with Professor David Dunger, University of Cambridge. Funded by NIHR.

  Study EGAS00001001086

• Colorectal_organoids_and_tumoroids___pulldown

  Targeted capture of cancer gene panel bait set in single cell derived organoids from colon tissue and colorectal cancer from 1 patient.

  Study EGAS00001000869

• Human non-malignant plasma cfRNA study - raw data

  mRNA capture sequencing on plasma sample from 88 patients with a non-malignant disease and from 37 healthy donors.

  Study EGAS50000001264

• GWAS in a dengue Thai cohort

  Around 700,000 SNPs were genotyped in 290 controls, 252 dengue fever patients and 159 dengue shock syndrome patients from Thailand.

  Study EGAS00001002756

• HCA_Thymus_Paediatric_CZI_Spatial

  Spatial transcriptome analysis of thymic cells from children with syndromic diseases such as Trisomy 21 and inflammatory/autoimmune diseases such as myasthenia gravis.

  Study EGAS00001006156