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• BLUEPRINT DNA methylation profiles of monocytes, T cells and B cells in type 1 diabetes-discordant monozygotic twins

  BLUEPRINT DNA methylation profiles of monocytes, T cells and B cells in type 1 diabetes-discordant monozygotic twins

  Study EGAS00001001598

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

  This dataset consists of amplicon targeted NGS paired-end raw data (FASTQ R1 and R2) obtained from 148 colon cancer patients. Specifically, we have 148 primary tumor tissue samples, 148 white blood cell samples, and 118 plasma samples collected at baseline.

  Dataset EGAD50000000084

• Multi-sample whole exome sequencing from 4 cases of advanced breast cancer.

  Metastatic and primary tumour samples were collected from 4 patients with advanced breast cancer. Samples were collected at autopsy and also from biopsies taken during life. Tumour and germline samples are available. Whole exome sequencing was performed on all samples.

  Dataset EGAD00001003137

• Tel Aviv RNA-seq dataset of of BiPSCs and FiPSCs derived cells

  RNA-seq data obtained from directed differentiation of a subset of FiPSCs and BiPSCs cell lines towards islet-like cells. RNA was collected at two key developmental stages: definitive endoderm (DE) and pancreatic progenitors (PP).

  Dataset EGAD00001003780

• EATL-II whole-exome sequencing profile

  Enteropathy-associated T-cell lymphoma (EATL), a rare and aggressive intestinal malignancy of intraepithelial T lymphocytes, comprises two disease variants (EATL-I and EATL-II) differing in clinical characteristics and pathological features. Here we report findings derived from whole exome sequencing of 15 EATL-II tumor-normal tissue pairs.

  Dataset EGAD00001002220

• RNA-sequencing

  Raw reads from RNA-sequencing of monocyte-derived macrophages from three individuals with heterozygous TET2 loss (Ly9, Ly11, Ly14) and two wild-type controls (Ly8 and an unrelated control). Libraries were prepared using ScriptSeq RNA-Seq Library Preparation Kit and Illumina sequenced with paired-end 75bp reads.

  Dataset EGAD00001004784

• Single cell RNA sequencing of CD34+ CB and BM samples in SLE and healthy controls

  Single cell RNA paired-end sequencing was performed on CD34+ progenitor cells derived from 4 SLE patients, 6 healthy control samples and 2 umbilical cord blood samples using Illumina MiSeq/NextSeq 500.

  Dataset EGAD00001011277

• Gastric Cancer Genetic Analysis of Metastasis

  To identify candidate drivers involved in oncogenesis and tumor evolution, we conducted an extensive genome sequencing analysis of metastatic progression in diffuse gastric cancer. This involved a comparison between a primary tumor from a Hereditary Diffuse Gastric Cancer Syndrome proband and its subsequent recurrence as an ovarian metastasis.

  Study phs000795

• Development of Precision Neoadjuvant-Adjuvant Therapies

  In clinical trials assessing neoadjuvant androgen deprivation therapy plus next-generation androgen receptor axis inhibitors, a subset of patients fail to demonstrate a complete pathologic response following treatment and radical prostatectomy. We performed exome and transcriptome analyses on laser capture microdissected foci of residual tumor from these patients.

  Study phs001399

• Familial Exome Sequencing in Rare Pediatric Phenotypes

  To discover novel candidate genes associated with rare Mendelian phenotypes, we will conduct individual genomic and phenotypic characterization using genome-wide array, pedigree exome sequencing, candidate genotyping, and pertinent clinical testing to define phenotype. Pedigrees included in this submission will have a variety of clinical pathological phenotypes.

  Study phs000553

• Single-cell RNA-seq, single-cell TCR-seq, single-cell BCR-seq, and CITE-seq of B and 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 JGAS000827

• Perioperative nivolumab or nivolumab plus ipilimumab in resectable diffuse pleural mesothelioma: Primary phase 2 trial results with ctDNA residual disease analyses

  This data set includes sequence files from whole genome sequencing of tumor (n=28), normal (n=28), and blood (n=113) specimens from a phase 2 clinical trial of neoadjuvant nivolumab and nivolumab/ipilimumab in resectable diffuse pleural mesothelioma (NCT03918252).

  Study EGAS50000001195

• Spatiotemporal genomic architecture informs precision oncology in glioblsatoma

  We characterized genomic and expression profiles across 127 multi-sector or longitudinal specimens from 52 glioma patients. We showed that, while samples from nearby geographical location shared similar genomic alterations (clonal or subclonal) and expression signatures, multifocal tumors were seeded from individual clones.

  Study EGAS00001001880

• Whole exome sequencing of preneoplasia lung adenocarcinoma

  Multi-region exome sequencing of 271 pulmonary nodules and matched adjacent lung tissue including lung preneoplasia atypical adenomatous hyperplasia (AAH, N=49), adenocarcinoma in situ (AIS, N=42), minimally invasive adenocarcinoma (MIA, N=37), invasive lung adenocarcinoma (ADC, N=57) and adjacent lung tissues (Normal, N=88).

  Study EGAS50000000270

• Clonal Evolution and Blastic Plasmacytoid Dendritic Cell Neoplasm - Two Cases

  Here we present two case studies of sequential whole exome sequencing (WES) in patients, who both developed BPDCN throughout their medical history but primarily presented with lymphoid cancers (clonally related ALK-negative anaplastic large-cell lymphoma (ALCL) and T-lymphoblastic lymphoma (T-LBL)) and whose bone marrow at remission exhibited a CMML phenotype, from which in both cases BPDCN clones arose that subsequently became treatment refractory.

  Study EGAS50000000214

• Chromothripsis orchestrates leukemic transformation in blast phase MPN through targetable amplification of DYRK1A

  We describe recurrent chromothripsis and structural variation 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%].

  Study EGAS00001007483

• Committee of human data related to the manuscript by Germano et al. Ms2016-04-06029

  Dac EGAC00001000750

• Somatic pathogenic variants in the normal mammary gland of sporadic breast cancer patients.

  Dac EGAC00001002391

• The genomic landscape of early-stage ovarian high grade serous carcinoma Data Access Commitee

  Dac EGAC00001002547

• The Chinese University of Hong Kong (CUHK) Circulating Nucleic Acids Research Group (CNARG)

  Dac EGAC00001002708

• The Chinese University of Hong Kong (CUHK) Circulating Nucleic Acids Research Group (CNARG)

  Dac EGAC00001003026

• DAC Neurology UKW

  DAC of the Department of Neurology, University Hospital Würzburg (UKW), Würzburg, Germany

  Dac EGAC50000000425

• Single-cell dissection of the immune response after a myocardial infarction

  Study EGAS00001007021

• The whole genome landscape of Burkitt lymphoma subtypes

  Study EGAS00001003778

• Minor intron splicing efficiency increases with the development of lethal prostate cancer

  Study EGAS00001005546

• Comprehensive Whole-Genome Sequence Annotation to Resolve the Genetic Architecture of Cerebral Palsy

  Study EGAS00001006724

• Whole genome sequencing dataset of 200 trio families from the CHILD cohort study.

  Study EGAS00001006725

• The genome-wide mutational consequences of DNA hypomethylation

  Study EGAS00001006845

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

  Dataset EGAD00001000834

• EGAD00000000109

  Gabriel samples from the UK SEVERE cohort

  Dataset EGAD00000000109

• EGAD00000000108

  Gabriel samples from the UK AUGOSA cohort

  Dataset EGAD00000000108

• EGAD00000000107

  Gabriel samples from the multicenter occupational cohort

  Dataset EGAD00000000107

• EGAD00000000106

  Gabriel samples from the multicenter occupational cohort

  Dataset EGAD00000000106

• EGAD00000000105

  Gabriel samples from the multicenter occupational cohort

  Dataset EGAD00000000105

• EGAD00000000104

  Gabriel samples from the Russian UFA cohort

  Dataset EGAD00000000104

• EGAD00000000103

  Gabriel samples from the Russian UFA cohort

  Dataset EGAD00000000103

• EGAD00000000102

  Gabriel samples from the Russian TOMSK cohort

  Dataset EGAD00000000102

• EGAD00000000101

  Gabriel samples from the Russian TOMSK cohort

  Dataset EGAD00000000101

• EGAD00000000094

  Gabriel samples from the UK MRCA cohort

  Dataset EGAD00000000094

• EGAD00000000093

  Gabriel samples from the German MAGIS cohort

  Dataset EGAD00000000093

• EGAD00000000092

  Gabriel samples from the German MAGIS cohort

  Dataset EGAD00000000092

• EGAD00000000091

  Gabriel samples from the Russian KMSU cohort

  Dataset EGAD00000000091

• EGAD00000000090

  Gabriel samples from the Russian KMSU cohort

  Dataset EGAD00000000090

• EGAD00000000089

  Gabriel samples from the Karelia Allergy Study

  Dataset EGAD00000000089

• EGAD00000000088

  Gabriel samples from the Karelia Allergy Study

  Dataset EGAD00000000088

• EGAD00000000087

  Gabriel samples from the multicenter GAIN cohort

  Dataset EGAD00000000087

• EGAD00000000086

  Gabriel samples from the multicenter GAIN cohort

  Dataset EGAD00000000086

• EGAD00000000083

  Gabriel samples from the French EGEA Cohort

  Dataset EGAD00000000083

• EGAD00000000082

  Gabriel samples from the French EGEA Cohort

  Dataset EGAD00000000082

• EGAD00000000075

  Gabriel samples from the Swedish BAMSE Cohort

  Dataset EGAD00000000075