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• Genomic Landscape of Cutaneous Diffuse Large B Cell Lymphoma

  Cutaneous diffuse large B cell lymphomas (DLBCL) are aggressive lymphomas with a poor prognosis. To elucidate their genetic bases, we performed whole exome capture and massively parallel sequencing on 19 tumor samples of diffuse large B cell lymphoma, leg type (DLBCL-LT) and 6 samples of secondary cutaneous diffuse large B cell lymphoma, not otherwise specified (DLBCL-NOS). Tumor specimens and their associated sequencing data were from multiple institutions, including Northwestern University (Chicago, IL), Massachusetts General Hospital (Boston, MA), and Medical University of Graz (Graz, Austria).

  Study phs001645

• Circulating Tumor DNA analysis in Relapsed/Refractory Germ Cell Tumors Treated with Salvage High-Dose Chemotherapy - IGG-04 Study

  Shallow whole genome analysis of circulating tumor DNA detected in the plasma of Relapsed/Refractory germ cell tumors treated with high dose chemotherapy

  Study EGAS50000001510

• Whole-genome sequencing of primary mediastinal large B-cell lymphoma

  To understand the molecular pathogenesis of Primary mediastinal large B-cell lymphoma (PMBCL), we performed whole-genome sequencing of 10 PMBCLs from 8 patients including 2 relapsed tumors.

  Study EGAS50000000340

• GWAS of SJS/TEN in Thai population

  This study looks at the Phenytoin-Induced SJS/TEN development based on SNP genotyping data of 1965 individuals from Thailand. Their normal DNAs were genotyped on Illumina HumanOmniExpressExome-8 v1.2 array.

  Study EGAS00001008316

• RNASeq of PAX4 KO vs WT in 7 stages of differentiation from human iPSCs to BLC

  Transcriptomes were profiled along with the differentiation from human induced pluripotent stem cell (iPSC) to beta-like cell (BLC) with PAX4 knocked out or not.

  Study EGAS00001006036

• Single cell RNA sequencing of colorectal cancer patients (CRC-SG1)

  Fresh single-cell suspensions were loaded into the Chromium system (10x Genomics) targeting 5,000 cells per well. Barcoded sequencing libraries were generated using 3’v3 Reagent kit.

  Study EGAS00001006013

• Redefined indel taxonomy reveals insights into mutational signatures

  Deposited here are whole-genome sequencing bam files from the experimental isogenic cell lines used in the study "Redefined indel taxonomy reveals insights into mutational signatures, Koh, Gene (2023)".

  Dataset EGAD50000000209

• CMML NGS data collection from Gustave Roussy

  In this dataset are the data from :- 17 patients studied by WGS- 49 patients studied by WES- 9 (/49) patients studied by RNASeq at 2 time points- the same 9 patients studied by ERRBS at 2 time points

  Dataset EGAD00001001853

• Whole genome sequencing of paediatric glioblastoma in the ICGC PedBrain project

  Whole genome sequencing of paediatric glioblastoma in the ICGC PedBrain project

  Dataset EGAD00001002006

• Exome_pituitary_adenoma

  Whole‐exome sequencing was performed using NimbleGen MedExome capture (Roche NimbleGen, Madison, WI, USA) from 1 μg of high quality genomic DNA, followed by sequencing of libraries using paired-end mode (2x 75bp) on a Nextseq 500 platform (Illumina, San Diego, CA, USA), at the Genomics Platform of the Cochin Institute. Reads were aligned on hg19 (GRCh37) using BWA V0.7.17.

  Dataset EGAD00001004997

• EGAD00010000628

  The TEENAGE study target population comprised adolescent students aged 13 to 15 years attending the first three classes of public secondary schools located in the wider Athens area of Attica.

  Dataset EGAD00010000628

• Mutational Signatures of relapse in rectal cancer FFPE samples in the CR07 clinical trial

  The CRO7 clinical trial recruited patients with clinically operable rectal adenocarcinoma. Patients were randomized to either pre-operative short course surgery followed by chemo-radiotherapy only in those patients at high risk of local relapse. Patients in both arms the received standard %-FU based adjuvant chemotherapy as per local policy. We intend to use FFPE derived DNA from the primary tumours to identify patterns of mutations or copy number alterations that are predictive of local or distant relapse.

  Dataset EGAD00001000875

• Human melanoma samples with and without resistance to BRAF inhibitor therapy

  Human melanoma samples were collected pre, on, and progression on BRAF inhibitor therapy. RNA was extracted and run on RNA-seq. This has provided insights into different categories of BRAF inhibitor resistance mechanisms.

  Study EGAS00001000992

• WGS,RNA data of patients with multiple myeloma (MM) refractory to immunomodulatory agents (IMiDs) and proteasome inhibitors (PIs)

  Paired WGS and RNA-Seq data of patients with multiple myeloma (MM) refractory to immunomodulatory agents (IMiDs) and proteasome inhibitors (PIs). We performed whole genome and transcriptome sequencing of 39 heavily pretreated RRMM patients with at least double refractoriness revealing complex structural changes and a high mutational load.

  Dataset EGAD00001006189

• Reduced-representation bisulfite sequencing generated from 2 glioblastoma cell lines subjected to hypoxic and irradiation stress

  This dataset includes 60 BAM files from HF2354, HF3016 glioblastoma cell lines subjected to continuous stress (hypoxia, 3-day and 9-day), stress followed by recovery (irradiation, 4-day stress exposure and 5-day recovery), and no stress/normoxia controls and profiled using reduced-representation bisulfite sequencing.

  Dataset EGAD00001007770

• ANGIOPREDICT - an FP7-funded project enabling personalised medicine for patients with metastatic colorectal cancer.

  Exome (*_{N,T}{1,2}) RNAseq (polyA - *_PolyA, and RiboZero - *_RibZ) Methylation (SeqCapEpi - MAPD*).

  Dataset EGAD00001008463

• The Druze Analysis Group

  Dac EGAC00001000215

• The PREDO Study DAC

  Dac EGAC00001000511

• Whole-genome sequencing in gastric cancer (part2)

  we analysis structural variations (SVs) and mutational signatures via whole-genome sequencing of 168 GCs. Our data demonstrates diverse models of complex SVs operative in GC, which lead to high-level amplification of oncogenes. We find varying proportion of tandem-duplications (TDs) among individuals and identify 24 TD hotspots involving well-established cancer genes such as CCND1, ERBB2 and MYC.

  Study EGAS00001006575

• T-ALL RNA-Seq raw data files

  Bone marrow or peripheral blood samples were collected of adult patients at first diagnosis of T-precursor acute lymphoblastic leukemia. RNA was isolated from mononuclear cells and subjected to mRNA library prep using Poly-A selection and sequencing on a NovaSeq 6000 system. Obtained gene expression profiles and gene fusion calls were used to allocate samples to molecular disease subtypes.

  Study EGAS50000000213

• Adult B-precursor acute lymphoblastic leukemia transcriptomes

  Bone marrow or peripheral blood samples were collected of adult patients at first diagnosis of B-precursor acute lymphoblastic leukemia. RNA was isolated from mononuclear cells and subjected to mRNA library prep using Poly-A selection and sequencing on a NovaSeq 6000 system. Obtained gene expression profiles and gene fusion calls were used to allocate samples to molecular disease subtypes.

  Study EGAS00001006107

• BLUEPRINT Bisulfite-seq and Whole Genome Sequencing of mantle cell lymphoma

  Bisulfite-seq and Whole Genome Sequencing of mantle cell lymphoma

  Study EGAS00001001638

• Building a Database of Genomic Structural Variants in Japanese population

  Purified genomic DNA was purchased from Japanese B cell DNA bank; We sequenced those genomic DNAs using PacBio and 10X Genomics sequencing technologies, and analyzed genomic structural variations.

  Study JGAS000173

• Building a Database of Genomic Structural Variants in Japanese population

  Purified genomic DNA was purchased from Japanese B cell DNA bank; We sequenced those genomic DNAs using PacBio Sequel and Sequel II and analyzed genomic structural variations.

  Study JGAS000286

• Whole_exome_sequencing_of_additional_thyroid_disease_cases

  Whole-exome sequencing of a cohort of families (probands and affected/unaffected relatives) suffering from one of two rare thyroid disorders: congenital hypothyroidism (CH) and resistance to thyroid hormone (RTH).

  Study EGAS00001001114

• Cohort A RNA sequencing

  Cohort A includes glioma tumors of varied grading and pathology from male and female individuals. RNA was isolated from fresh frozen glioma tissue of each sample tumor block from Cohort A.

  Study EGAS50000000950

• early onset lone atrial fibrillation case-control study

  Target sequencing W/ TruSight Cardio Sequencing Kit. 395 early onset lone AF cases and 375 controls. Sequencing was performed on Illumina NextSeq and HiSeq 2500 systems.395 early.

  Study EGAS00001003208

• Chromatin immunoprecipitation followed by sequencing combined with transcription factor (TF) motif identification and transcriptome analyses revealed different patterns of REST binding and its proximal TF motifs in IDH wild-type and mutant gliomas

  Study EGAS00001006366

• WGS of constitutional MLH1 epimutation carriers and non-carrier relatives

  WGS of constitutional MLH1 epimutation carriers and non-carrier relatives

  Study EGAS50000000500

• DAC of the BriTROC-1 project

  Dac EGAC00001003291

• THE GENOMIC LANDSCAPE OF ACTINIC KERATOSIS

  Dac EGAC00001001926

• Head of the Sequencing Unit

  Dac EGAC00001002698

• The AGGA Data Access Committee

  Dac EGAC00001003019

• Lengthening and shortening of plasma DNA in hepatocellular carcinoma patients

  Lengthening and shortening of plasma DNA in hepatocellular carcinoma patients

  Study EGAS00001001024

• Small RNA sequencing of endometrial cancer patients with samples collected prior to diagnosis and controls

  This dataset contains unpaired FASTQ files of 316 endometrial cancer cases and 316 matched controls representing circulating RNAs. RNA count files are provided as the output of sncRNA pipeline and represent 12 RNA types (isomiR, lncRNA, precursor miRNA, miRNA, miscRNA, mRNA, piRNA, scaRNA, snoRNA, snRNA, tRF, and tRNA). We also provide metadata of the samples.

  Dataset EGAD50000000391

• Next Generation Mendelian Genetics: Hereditary Neurological Disorders

  The NHGRI Next Generation Mendelian Genetics project uses exome resequencing to identify variants in unsolved Mendelian diseases. This dataset was obtained from exome analyses of people with hereditary neurologic disorders of unknown cause.

  Study phs000707

• Whole exome RNA sequencing of FFPE material from 49 pediatric BCP-LBL patients.

  This study contain the results of whole exome-targeted transcriptome analyses of FFPE material from 49 pediatric B-cell precursor lymphoblastic lymphoma patients. Data are provided as Fastq files.

  Study EGAS50000000289

• Targeted resequencing of ribosomal proteins in multiple myeloma patient samples.

  We studied 38 multiple myeloma samples to discover mutations in ribosomal proteins. To this end, we ran a specifically designed targeted resequencing study to resequence the coding regions of all ribosomal proteins.

  Study EGAS00001002405

• RNAseq of mCRC xenografts under cetuximab treatment, placebo or after treatment release

  Determine if cetuximab treatment selects any pre-existing resistant subclones or if the resistant cells, which in vivo determines residual disease, are driven by plasticity effects not linked to mutations.

  Study EGAS00001003765

• 20_Matched_Pair_Breast_Cancer_Genomes

  We propose to definitively characterise the somatic genetics of 20 breast cancers through generation of comprehensive catalogues of somatic mutations by high coverage genome sequencing coupled with integrated transcriptomic data.

  Study EGAS00001000170

• Age-dependent association of clonal hematopoiesis with COVID-19 mortality in patients over 60 years

  Genomic DNA extracted from peripheral blood of COVID-19 patients (n = 241 deceased, n = 239 survivors) was sequenced with the Myeloid Solutions™ panel of SOPHiA Genetics.

  Study EGAS50000000001

• Von Hippel-Lindau syndrome multi-region exome sequencing project from two patients undertaken at Cancer Research UK's London Research Institute

  Multi-region whole exome sequencing of tumours from patients with Von Hippel-Lindau syndrome reveals convergence of mutayional events upon the PI3L-AKT-mTOR signalling pathway.

  Study EGAS00001000907

• WES of mCRC xenografts under cetuximab treatment, placebo or after treatment release

  Determine if cetuximab treatment selects any pre-existing resistant subclones or if the resistant cells, which in vivo determines residual disease, are driven by plasticity effects not linked to mutations.

  Study EGAS00001003764

• He et al. RNA-seq data

  This dataset are the bam files of RNA-seq data from the paper by He et al.

  Dataset EGAD00001007135

• RNA sequencing of Human Organoid Lines

  The study will use RNA sequencing to aid in benchmarking different culture conditions in a set of genetically annotated human organoid lines. The data will be used to assess whether there are any clonal differences introduced when culturing these lines in different conditions.

  Dataset EGAD00001007971

• PGDx elio™ tissue complete assay: targeted sequencing analyses of tissue DNA

  The dataset "PGDx elio™ tissue complete assay: targeted sequencing analyses of tissue DNA" includes paired end FASTQ reads of 28 tissue samples from metastatic colorectal cancer patients. Sequencing was performed using a panel consisting of 505 genes, targeting 2,500x depth across the targeted regions.

  Dataset EGAD00001009720

• Gene expression profiling of SLE and healthy control samples

  mRNA-sequencing study of 141 patients with SLE and 48 healthy control samples.

  Study EGAS00001005701

• Bulk RNA-seq of Human Epiglottis and Subglottis

  This study contains bulk and single nucleus RNA-seq of human epiglottis and subglottis tissue.

  Dataset EGAD50000001278

• Single-nucleus RNA-sequencing of normal adrenal cortex and adrenocortical tumors

  BAM generated using Cell Ranger v3.1.0 and Space Ranger v1.3.1 and anonymized using BAMBoozle

  Dataset EGAD50000000835

• Genomic characterization of pancreatic tumours and matched xenograft and organoid models - WGS mapped reads

  Whole Genomes Define Concordance in Matched Primary, Xenograft, and Organoid Models of Pancreas Cancer - WGS mapped reads

  Dataset EGAD00001003586

• RNA sequencing of skin tissue and peripheral blood mononuclear cells from patients with atopic dermatitis and healthy controls.

  We performed RNA-sequencing of skin tissue and peripheral blood mononuclear cells obtained from patients with atopic dermatitis along with healthy controls in Japanese population.

  Study JGAS000628

• TallFlow - multi-omics

  Single-cell Immune profiling 10X genomics protocol. This data includes 5' mRNA sequencing, TCR sequencing, and 204 AB sequencing. In total 15 pediatric T-ALL samples and 4 pediatric Thymus samples.

  Study EGAS50000000358

• Clonal_human_oesophagus_punches

  We wish we perform whole genome sequencing on known clonal libraries of human oesophagus to provide a detailed investigation into differences in mutational burden, copy number and mutational signatures both within and between individuals.

  Study EGAS00001007696

• Histone Acetylome-wide Association Study of Autism Spectrum Disorder

  H3K27ac ChIP-seq were performed on postmortem samples from autism spectrum disorder and matched control brains. Tissues were chosen from three brain regions: prefrontal cortex, temporal cortex and cerebellum.

  Study EGAS00001001943

• Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease

  short and long read data generated from cultured corneal endothelial cells (CECs) of unaffected controls, expansion positive Fuchs Endothelial Corneal Dystrophy (FECD) and expansion negative FECD individuals.

  Study EGAS50000000303

• Single-cell T-cell receptor sequencing of intraepithelial gammadelta T-cells in celiac disease

  Single-cell paired TCR sequencing of intraepithelial γδ T-cells in gluten-free diet treated and untreated celiac disease patients and in controls. (Paired end, amplicon sequencing).

  Study EGAS00001003897

• Chronic lymphocytic leukemia patient-derived xenografts recapitulate clonal evolution to Richter transformation

  Whole-genome sequencing (WGS) and RNA-seq data from patient-derived xenografts (PDXs) obtained from CLL and RT primary samples as described in Playa-Albinyana et al.

  Study EGAS00001006965

• RNA-seq iNKT, T and C1R cells

  RNA-seq (Ribodepleted Directional -75 PE- Hiseq 4000) data of purified and expanded iNKt and T cells from normal donor, and RNA-seq (poly-A 100-PE Hiseq 2500) data from C1R cell line. Data set consist of 3 pairs of fastq files, one pair per sample

  Dataset EGAD00001004331

• MPRA-SCZ

  RNA-Seq and ATAC-Seq of iPSC derived neurons under baseline and KCl stimulation conditions from 10 distinct donors, including 5 healthy controls and 5 schizophrenic individuals. scATAC of human post mortem prefrontal cortex from 4 adult individuals including 2 neurotypical individuals and 2 schizophrenic individuals.

  Dataset EGAD00001011335

• Identifying aberrant splicing isoforms and potential neoantigens in non-small cell lung cancer

  To identify aberrant splicing isoforms and potential neoantigens, we performed full-length cDNA sequencing of seven non-small cell lung cancer specimens using a long-read sequencer MinION. We detected aberrant splicing isoforms using our bioinformatics pipeline and constructed a comprehensive catalogue.

  Study JGAS000245

• Combination pembrolizumab and radiotherapy induces systemic anti-tumor immune responses in immunologically-cold non-small cell lung cancer

  This data set includes sequence files from whole exome sequencing and RNA sequencing from serial tissue and blood biospecimens from a phase 2 clinical trial of stereotactic body radiation therapy (SBRT) followed by pembrolizumab in metastatic non-small cell lung cancer (NSCLC; NCT02492568).

  Study EGAS50000000277

• Cellular Analysis of Resistance and Evolution (CARE) IDH-mutant glioma dataset

  In IDH-mutant glioma, genetic evolution and cellular heterogeneity across and within tumors may drive therapeutic resistance. Here, we analyzed 35 longitudinal patients by single-nucleus RNA-sequencing with a subset also characterized by bulk tumor DNA sequencing to better understand IDH-mutant glioma evolution.

  Study EGAS50000001727

• RNA Sequencing of Control and Myotonic Dystrophy Type 1 Cells During Myogenic Differentiation

  To investigate gene expression dynamics during myogenic differentiation in myotonic dystrophy type 1, RNA was collected from immortalized control, patient-derived, and CRISPR/Cas9-corrected myoblasts at proliferation (day -2) and at days 1 and 5 of differentiation. High-quality RNA was isolated and sequenced using poly(A)-enriched or rRNA-depleted protocols, yielding 100 bp paired-end reads with high coverage. A subset of samples at day 1 underwent deeper sequencing to enhance transcriptome resolution.

  Dataset EGAD50000001647

• WGS of clonal organoids, bulk-tumor tissues, and matched blood samples derived from metastatic colorectal cancer patients

  This dataset consists of WGS fastq files from 58 clonal organoids and 18 fresh-frozen (FT) bulk-tissue samples from surgically resected primary and metastatic tumors before and after anticancer therapies in 6 patients with matched blood control samples from each patient. After DNA extraction from each sample using DNeasy Blood and Tissue Kit (Qiagen), library preparation was done using TruSeq DNA PCR-free kit. Then, paired-end fastq files were generated using Illumina NovaSeq 6000.

  Dataset EGAD50000001493

• Identification of Long Non-coding RNA Biomarker of Human Lupus Nephritis Disease Activity

  Total RNA sequencing was performed on whole blood samples from 74 Lupus nephritis (LN) patients and 20 healthy controls. Differential expression analysis and weighted gene co-expression network analysis were performed to characterise expression changes of long non-coding RNAs (lncRNAs) in LN and identify lncRNAs with a key role in disease activity that could be used as potential blood-based biomarkers.

  Study EGAS00001007117

• IVF Whole genome prediction

  Preimplantation Genetic Testing (PGT) of in vitro fertilized (IVF) embryos has been proposed as a method to reduce transmission of common disease, although comprehensive genetic assessment remains unavailable. Here we use a combination of molecular and statistical techniques to reliably and accurately infer inherited genome sequence in 110 embryos. We combine polygenic risk scores (PRS) and rare variation to model susceptibility across 12 common conditions.

  Study EGAS00001005619

• RNA sequencing datasets from isolated human subcutaneous and visceral adipocytes from obese and lean people

  94 human adipocyte samples isolated from whole adipose tissues using collagenase digestion of tissue and flotation of lipid-laden adipocytes, followed by RNA isolation and RNA sequencing (SMARTer Stranded Total RNA-Seq library preparation, HiSeq 4000 100-bp paired-end reads). Adipocyte samples comprise subcutaneous and visceral adipocytes isolated from obese and lean people (N=24 obese-subcutaneous, N=24 obese-visceral, N=22 control-subcutaneous, N=24 control-visceral). Human adipocyte RNA sequencing data are provided as BAM files.

  Dataset EGAD00001010195

• Participating PI's in the Asia Diversity Project

  Dac EGAC00001000565

• Evolution of the African pygmy phenotype

  Dac EGAC00001000216

• The CGGA Data Access Committee

  Dac EGAC00001001664

• The Xq22.3 contiguous gene deletion syndrome

  Dac EGAC00001002150

• The MITIMM Cancer Data Access Committee

  Dac EGAC00001002268

• Whole exome sequencing of surgically resected lung adenocarcinomas and gastric adenocarcinomas.

  We performed whole exome sequencing of surgically resected lung adenocarcinomas and gastric adenocarcinomas.

  Study JGAS000216

• Highly similar genomic landscapes in monoclonal B-cell lymphocytosis and ultra-stable chronic lymphocytic leukemia with low frequency of driver mutations

  whole genome sequencing of MBL and CLL

  Study EGAS50000000434

• Whole genome and whole transcriptome sequencing of Hepatosplenic T Cell Lymphoma tumor.

  Whole genome and whole transcriptome sequencing of Hepatosplenic T Cell Lymphoma tumor.

  Study EGAS00001003775

• RNAseq of paired primary and locally recurrent IDHwt GBM

  Perform RNAseq of paired primary and locally recurrent IDHwt GBM following standard treatment.

  Study EGAS00001006871

• ChIPseq data of child-mother pairs, maternal smoking.

  ChIPseq data of whole blood samples from smoking and non-smoking mothers and their children at gestation/birth and follow-up years.

  Dataset EGAD00001002012

• Single-cell RNA sequencing of chemotherapy-resistant muscle-invasive urothelial bladder cancer

  All single-cell mRNA sequencing data were acquired from a single patient (BC159-T#3) and patient-derived xenografts (BC159-T#3-PDX-vehicle and BC159-T#3-PDX-tipifarnib).

  Study EGAS00001004233

• AT2 COPD Methylomics

  We generated genome-wide DNA methylation maps at single CpG resolution of primary human lung AT2 cells isolated from distal parenchyma of ex-smoker controls and COPD patients, with both mild and severe disease

  Study EGAS00001007386

• Effect of ETS2 modulation on chromatin accessibility and enhancer activity in primary human macrophages

  3 datasets included: - H3K27ac ChIP in ETS2-edited and unedited TPP macrophages from 3 biological replicates - H3K27ac ChIP in ETS2-overexpressing and control M0 (resting) macrophages from 3 biological replicates - ATAC-seq (deep sequencing) in ETS2-edited and unedited TPP macrophages from 3 biological replicates

  Dataset EGAD50000000154

• Circulating tumor DNA in urine and plasma of glioma patients - sequencing data

  Dataset consisting of sequence data from 36 glioma patients. Data includes; -Whole exome sequencing of tumour tissue and matched germline -Shallow whole genome sequencing of urine cell-free DNA -Targeted capture sequencing of plasma and CSF cell-free DNA Additional sequencing data are provided from non-glioma and healthy controls

  Dataset EGAD00001006156

• scRNA-seq of first and second trimester human gonads - HUGODECA dataset

  Comprehensive map of first- and second-trimester gonadal development in humans using a combination of single-cell and spatial transcriptomics, chromatin accessibility assays, and imaging. ArrayExpress Accession: E-MTAB-10551

  Dataset EGAD00001009386

• Single-cell T-cell receptor sequencing of intraepithelial CD8+ αβ T-cells in celiac disease

  Single-cell paired TCR sequencing of intraepithelial CD8+ αβ T-cells in gluten-free diet treated and untreated celiac disease patients and in controls. (Paired end, amplicon sequencing).

  Study EGAS00001004989

• The Institute of Cancer Research - Endocrinology Team

  Dac EGAC00001000532

• The Ashkenazi Genome Consortium Data Access Committee

  Dac EGAC00001000151

• The EMC-ILC3 consortium Data Access Committee

  Dac EGAC00001000729

• The Xiaoping Miao's lab of HUST.

  Dac EGAC00001000897

• Lead investigator of the TONIC study

  Dac EGAC00001001150

• The Jerusalem Perinatal Study (JPS) data access committee

  Dac EGAC00001001421

• Head of the circulating cells platform

  Dac EGAC00001001508

• Cancer Genomics of the Kidney - Targeted Sequencing

  Dac EGAC00001003091

• Spatial Dynamics of the Developing Human Heart

  Dac EGAC50000000616

• Adaptive long-read and transcriptome sequencing detail a submicroscopic inv(15)(q14q15), generating two fusion transcripts and MEIS2 and NUSAP1 haploinsufficiency

  Study an inversion affecting MEIS2 using ONT adaptive sequencing.

  Study EGAS50000000632

• Delineating intratumoural heterogeneity and neoantigen-directed immune escape in Esophageal Squamous Cell Carcinoma

  Delineating intratumoural heterogeneity and neoantigen-directed immune escape in Esophageal Squamous Cell Carcinoma

  Study EGAS00001003832

• Prostate cancer datasets RNA Seq

  Total RNA Seq: 15 Samples (2 patients (MF1 and MF3)) (HiSeq) and Poly A RNA Seq: 27 Samples (4 patients Normal and Tumour ) (HiSeq)

  Dataset EGAD00001004468

• Exome sequencing to evaluate HER2/ERBB2 mutations in cancer

  ERBB2/HER2 transmembrane and juxtamembrane domain mutations in cancer. Exome sequencing of tumor and matched blood and 2 blood samples from relatives.

  Dataset EGAD00001004351

• WGS and ONT Bams Accompanying Loose Ends Dataset

  Short read whole genome and long read Oxford Nanopore sequencing of matched tumor/normal material from 10 Melanoma and 1 case of TNBC.

  Dataset EGAD00001011047

• Novel genome editing strategies to uncover genotype-phenotype correlations in Polycystic Kidney Disease: a proof-of-concept

  Bulk RNA-seq of genome-edited HEK293T cell lines engineered to model specific PKD1 variants. This dataset enables the exploration of genotype-phenotype correlations in Polycystic Kidney Disease (PKD)

  Study EGAS50000001188

• RNA Sequencing of Colorectal Liver Metastases

  A subset of patients with metastatic colorectal cancer achieves prolonged survival after hepatic resection of limited liver metastases. Here, we examined the molecular features of colorectal liver metastases as they relate to clinical outcomes.

  Study EGAS00001002945

• RNA-Seq profiles from the CheckMate-649 Clinical Trial

  This dataset contains RNA sequencing (RNAseq) data of 814 patients from the CheckMate 649 clinical trial whose ICF allows data deposition into a public repository. Gene expression profiling was performed retrospectively using RNAseq on a subset of baseline tumor samples. Paired-end FASTQ files were processed on Seven Bridges platform (Seven Bridges Genomics).

  Dataset EGAD50000001105