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• 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

• 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

• 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

• 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

• Plasma methylome of metastatic prostate cancer

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

  Dataset EGAD00001005433

• 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

• 300-Obese cohort gut microbiome data

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

  Dataset EGAD00001005083

• GCLJ RNA-Seq data

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

  Dataset EGAD00001004320

• 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

• 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

• Whole genome sequencing of AVM endothelial and non-endothelial cell fractions

  We previously identified somatic activating KRAS mutations in a majority of human arteriovenous malformations (AVMs), using whole exome sequencing, which were enhanced in AVM endothelial cell fractions. We have now performed whole genome sequencing on AVM endothelial and non-endothelial cell fractions, as well as paired blood samples, in order to identify further somatic mutations.

  Study EGAS00001006719

• Data Access Committee of the MyPAC clinical research group (Sorbonne Universités, UPMC Univ Paris 06, GRC n°07, Groupe de Recherche Clinique sur les Myéloproliférations Aiguës et Chroniques MyPAC)

  Dac EGAC00001000480

• Papua New Guinean Lowlanders Dataset (PNGLD)

  DAC to oversee high-coverage whole genome sequences collected to study patterns of genomic variation across the southern lowland of Papua New Guinea.

  Dac EGAC50000000032

• Covacta OLINK QC metrics

  Olink Explore 1536 dataset from serum of patients enrolled in the COVACTA trial. This dataset includes QC warning flag provided by Olink.

  Dataset EGAD00001011167

• Human adipocyte bulk RNA-seq dataset

  The dataset contains raw RNA-seq data of human adipocytes from 13 individuals.

  Dataset EGAD00001008335

• Haemoglobin E beta thalassaemia in a patient group from Sri Lanka

  Exome sequencing of 32 patient samples from Sri Lanka with the condition haemoglobin E beta thalassaemia

  Dataset EGAD00001002185

• Exploring Genomic Mutations in Gastric Cancer among Japanese Populations

  We conducted a comprehensive analysis of whole-genome and RNA sequences obtained from biopsy samples of 65 patients with advanced gastric cancer prior to chemotherapy treatment.

  Study JGAS000754

• WGS analysis of a glioma initiating cell line

  We here obtained whole-genome sequencing data to analyze transcription factor binding sequences and somatic mutations found in our RNA-seq analysis of glioma initiating cells.

  Study JGAS000096

• Elucidation of male-specific genetic regulation through multi-layered omics analysis

  We performed single-cell RNA-sequencing of peripheral blood mononuclear cells from asthma patients and single-cell multiome (RNA+ATAC) profiling from COVID-19 patients.

  Study JGAS000862

• Non-coding RNAs in breast cancer

  Using RNA CaptureSeq we annotated non-coding RNAs transcribed from genome intervals surrounding breast cancer risk signals in a range of mammary-derived tissue and cell lines.

  Study EGAS00001003353

• MNM - Temporal variability in Quantitative Microbiome Profiles

  Daily quantitative microbiome profiling on 713 fecal samples from 20 Belgian women over six weeks, combined with extensive anthropometric measurements, blood panels, dietary data, and stool characteristics.

  Study EGAS00001005686

• EBV_AID_project

  Whole genome sequencing of EBV-transformed B cells in order to determine whether EBV induction of activation-induced cytidine deaminase (AID) produces genome-wide mutations and/or chromosomal rearrangements.

  Study EGAS00001000955

• Genomic characterization of Malignant Pleural Mesothelioma.

  Genomic characterization of Malignant Pleural Mesothelioma using RNA-seq, Exome and Illumina 2.5 M array.

  Study EGAS00001001563

• Transcriptional Reference Map of Human Natural Killler Cells

  Here we performed single-cell RNA sequencing of both bulk NK and sorted NK subsets to establish a transcriptional reference map of human natural killer cells.

  Study EGAS50000000014

• TCRseq

  T cell receptor sequencing of tumor samples. Briefly, DNAse I treated tumor RNA samples were subjected to library preparation using AmpliSeq Immune Repertoire Panel (Illumina) and sequenced using NextSeq500.

  Study EGAS50000000258

• The_Little_Princess_Knowledge_Bank_

  We propose to build a genetic knowledge bank of Wilms tumour that integrates clinical outcome data with a genetic, epigenetic, and transcriptomic survey of 1,000 Wilms tumours.

  Study EGAS00001004237

• Single-cell transcriptomic data of 9 DHG-H3G34 patient tumors.

  We applied single-cell/single-nucleus RNA-sequencing to a patient cohort of 9 fresh and frozen untreated diffuse hemispheric gliomas, H3G34-mutant (DHG-H3G34).

  Study EGAS50000000534

• LINE_luminal_breast_cancer_Neoadjuvant_Chemotherapy_Study

  A targeted gene screen of 365 known cancer genes in luminal breast cancer samples pre-chemotherapy and at resection post-chemotherapy to evalaute clonal expansion of chemotherapy cancer cells.

  Study EGAS00001001223

• Single-cell RNA sequencing of bronchoalveolar lavages from COVID-19 patients

  Discriminating mild-moderate from critical COVID-19 disease by innate and adaptive immune single-cell profiling of bronchoalveolar lavages.

  Study EGAS00001004717

• Whole-genome landscape of adult T-cell leukemia/lymphoma

  Whole-genome sequencing (WGS) data of tumor-normal pairs from 139 ATL patients and RNA sequencing (RNA-seq) data of tumors from 28 ATL patients.

  Study EGAS00001005237

• Single Cell Sperm sequencing try 2

  Sequence single cell sperm using a 10X Chromium. As a pilot test, we used samples from men who have had children with autism and normal controls.

  Study EGAS00001004035

• Human inflammatory cardiomyopathies following SARS-CoV2 infection and COVID-19 vaccination dataset

  This dataset consists of transcriptome data of 25 human samples with myocarditis, thereof: 8 without COVID-19, 10 post COVID-19, 4 after COVID-19 vaccination and 3 with MIS-C (Multisystem Inflammatory Syndrome in Children, PIMS).

  Dataset EGAD50000001130

• DLBCL DNA methylation data

  DLBCL DNA methylation data measured by 450k and EPIC Illumina arrays

  Dataset EGAD00010001974

• Nasal Polyp Whole-transcriptome sequencing

  Whole-transcriptome sequencing (RNAseq) in patients with chronic rhinosinusitis with nasal polyps (CRSwNP) and controls. Differential expression patterns in genes involved in cilia, viral defense and NKT-cell specific pathways, suggesting a role of viral immunity in combination with cilia functionality in CRSwNP.

  Dataset EGAD00001010146

• Whole transcriptome profiling of osteosarcoma

  This dataset contains 86 osteosarcoma samples and their matched normals that underwent RNA sequencing using size fractionation, NuGEN Ovation Ultralow Library System V2 preparation, and paired-end sequencing on Illumina HiSeq 2000.

  Dataset EGAD00001008435

• Whole transcriptome profiling of osteosarcoma

  This dataset contains 86 osteosarcoma samples and their matched normals that underwent RNA sequencing using size fractionation, NuGEN Ovation Ultralow Library System V2 preparation, and paired-end sequencing on Illumina HiSeq 2000.

  Dataset EGAD00001008436

• Single cell CNV and ATAC profiling of multiple myeloma

  Patient-derived samples were profiled using 10X genomics single-cell CNV and single-cell ATAC kits.

  Dataset EGAD00001007788

• Single cell Transcriptome Analysis of regulatory Tcells from blood, fat and skin

  Regulatory Tcells were FACS sorted and processed with 10x Genomics Chromium Next GEM Single Cell 5' v2 sequencing. In total 17 samples were processed. Fastq files are supplied.

  Dataset EGAD00001007665

• MPNST_Data

  WES from 51 cases initially diagnosed as Malignant Nerve Sheath Tumours (MPNST) and RNA sequencing data from 10 MPNST cases. Find more information in article: Lyskjær et al, 2020, J Pathol, "H3K27me3 expression and methylation status in histological variants of malignant peripheral nerve sheath tumours".

  Dataset EGAD00001006253

• Chromatin run-on and transcriptome sequencing of fibrolamellar carcinoma

  Fastq files of chromatin run-on (14 fibrolamellar carcinoma, 3 non-malignant liver; single-end) and transcriptome (23 fibrolamellar carcinoma, 2 non-malignant liver; paired-end) sequencing of fibrolamellar carcinoma

  Dataset EGAD00001005797

• BLUEPRINT: A human variation panel of genetic influences on epigenomes and transcriptomes in three immune cells (WGS)

  BLUEPRINT: A human variation panel of genetic influences on epigenomes and transcriptomes in three immune cells (WGS)

  Dataset EGAD00001002663

• BLUEPRINT DNA methylation profiles of monocytes, T cells and B cells in type 1 diabetes-discordant monozygotic twins (Bisulfite-Seq data).

  BLUEPRINT DNA methylation profiles of monocytes, T cells and B cells in type 1 diabetes-discordant monozygotic twins (Bisulfite-Seq data).

  Dataset EGAD00001002682

• Identification of SPEN as a novel cancer gene and FGFR2 as a potential therapeutic target in adenoid cystic carcinoma

  Identification of SPEN as a novel cancer gene and FGFR2 as a potential therapeutic target in adenoid cystic carcinoma

  Dataset EGAD00001000175

• Comparing sequencing of four proto-typical Burkitt lymphomas (BL) with IG-MYC translocation.

  By whole-genome, exome, transcriptome and methylome sequencing of four proto-typical Burkitt lymphomas (BL) with IG-MYC translocation we identified seven recurrently mutated genes including ID3. In an extended cohort, 36/53 (68%) molecularly-defined BL carried potentially damaging mutations of ID3 which were enriched at somatic hypermutation motifs. Only 6/47 (13%) other IG-MYC-positive B-cell lymphomas carried ID3 mutations suggesting cooperation of ID3 inactivation and IG-MYC translocation to be a hallmark of Burkitt lymphomagenesis.

  Study EGAS00001000271

• WGS data of plasma cell free DNA

  Raw paired-end whole-genome sequencing data of plasma cell free DNA on the NovaSeq 6000.

  Dataset EGAD50000000257

• nwa.data.IF.papers

  Genome-wide SNP from 221 individuals from Northwestern Amazonia genotyped on the Affymetrix Human Origins Array

  Dataset EGAD00010002394