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• BLUEPRINT September 2016, RNA-Seq Acute Myeloid Leukemia from venous blood, on Genome GRCh38

  RNA-Seq data for 1 sample(s) Acute Myeloid Leukemia from venous blood, on Genome GRCh38. 1 run(s), 1 experiment(s), 0 alignment(s). Part of BLUEPRINT (September 2016).Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811

  Dataset EGAD00001002958

• BLUEPRINT September 2016, RNA-Seq Acute Lymphocytic Leukemia from bone marrow, on Genome GRCh38

  RNA-Seq data for 1 sample(s) Acute Lymphocytic Leukemia from bone marrow, on Genome GRCh38. 1 run(s), 1 experiment(s), 0 alignment(s). Part of BLUEPRINT (September 2016).Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811

  Dataset EGAD00001002954

• BLUEPRINT September 2016, ChIPmentation T-cell Acute Lymphocytic Leukemia from capillary blood, on Genome GRCh38

  ChIPmentation data for 2 sample(s) T-cell Acute Lymphocytic Leukemia from capillary blood, on Genome GRCh38. 2 run(s), 2 experiment(s), 2 alignment(s). Part of BLUEPRINT (September 2016).

  Dataset EGAD00001002938

• The Druze Analysis Group

  Dac EGAC00001000215

• The PREDO Study DAC

  Dac EGAC00001000511

• Human Tumor Atlas Network (HTAN)

  An NCI-funded Cancer Moonshot initiative to construct 3-dimensional atlases of the dynamic cellular, morphological, and molecular features of human cancers as they evolve from precancerous lesions to advanced disease.

  Study phs002371

• Genomic Characterization of HPV+ Oropharyngeal Tumors

  Archived surgical samples from HPV positive oropharynx patients were identified and sequenced through the UNC/UTHSC NCTN Integrated Translational Science Center. DNA targeted panel sequencing data will be available through dbGaP.

  Study phs003925

• Comprehensive molecular profiling with whole-exome sequencing (WES) and RNA sequencing (RNA-seq) of PDX tumors

  To identify biomarkers of the antitumor efficacy of molecular targeted therapies, patient-derived xenograft (PDX) mouse models established from 52 patients with solid tumors were treated.

  Study JGAS000707

• Whole genome sequencing of chondrosarcoma

  Massive parallel sequencing of 10 chondrosarcoma genomes was conducted to identify somatic mutations, structural alterations including fusion genes and mutation signatures that may help to comprehensively characterize the molecular features.

  Study EGAS00001000505

• Long-read and short-read RNA sequencing of human normal liver organoid with or without SF3B4 overexpression

  There are 2 matched short and long read RNA sequencing samples. The project aims to find alternative splicing events and resulting transcript isoforms modulated by SF3B4

  Study EGAS50000001131

• Whole Exome Sequencing Data of indolent primary renal B-Cell lymphomas

  We used sequenced 34 iNHL samples using whole exome sequencing (WES) data to evaluate possible mutational signatures and driver mutations associated with the patient’s clinical and cytogenetic characteristics.

  Study EGAS50000000774

• Testing_the_feasibility_of_genome_scale_sequencing_in_routinely_collected_FFPE_cancer_specimens_versus_matched_fresh_frozen_samples

  Testing the feasibility of genome-scale sequencing in routinely collected formalin-fixed paraffin-embedded (FFPE) cancer specimens versus matched fresh-frozen samples using whole exome and targeted exome capture prior to Illumina sequencing.

  Study EGAS00001000173

• 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 exome and transcriptome sequencing of biliary tract cancer

  To uncover the full repertoire of genetic and transcriptomic landscape of biliary tract cancer (BTC), we molecularly characterized BTC based on genetic and transcriptomic alteration profiles.

  Study EGAS00001000950

• Breast cancer risk SNPs converge on estrogen receptor binding sites commonly shared between breast tumors to locally alter estrogen signalling output

  Evaluate the biology underlying inter-tumor cistromic heterogeneity of ER-alpha, in relation to genomic locations and germline variations between breast cancer tumors

  Study EGAS50000000008

• 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

• Genomic architecture and evolution of clear cell renal cell carcinomas defined by multiregion sequencing

  We applied multi-region exome sequencing to 10 clear cell renal carcinomas to resolve the genetic architecture, intra tumour heterogeneity and evolutionary histories of these tumours.

  Study EGAS00001000667

• 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

• Genome-wide characterization of Arabian Peninsula populations

  The screening of 741,000 variants in 420 individuals from Arabian Peninsula (100 from Saudi Arabia, 100 from Yemen, 100 from Oman and 120 from UAE) and 80 individuals from Iran.

  Study EGAS00001003335

• 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

• PhIP-Seq LLD

  Bacteriophage Immunoprecipitation Sequencing (PhIP-Seq) of LLD participants. Libraries and protocol were developed in the Weizmann Institute of Science. Two different libraries were used, containing microbial and other immunological peptides respectively.

  Study EGAS00001006999

• Whone genome DNA methylation profile

  Primary human CD4+ naive T cells were cultured in vitro and sorted based on the defined number of division steps which they have undergone. Of those populations (division 0/div4/div6) EMseq data were generated to assess the whole-genome DNA methylation profile. 2 independent experiments with 2 different donors were conducted

  Dataset EGAD50000001815

• Variant calling dataset from the whole-exome study of sepsis and acute distress respiratory syndrome in Spain

  Whole-exome sequence reads were obtained from a set of 934 unrelated individuals from the study of sepsis and acute distress respiratory syndrome in Spain (GEN-SEP study), using Illumina paired-end reads.

  Dataset EGAD50000001613

• CHIP panel sequencing of rheumatoid arthritis patients

  Targeted NGS sequencing data (bam and index files aligned to hg38) a total of 573 newly diagnosed, untreated RA patients and 163 healthy controls. The sequencing panel included 65 genes recurrently mutated in myeloid malignancies, to capture clonal hematopoiesis of indeterminate potential (CHIP) mutations. The median target coverage was 1700x across samples.

  Dataset EGAD50000001300

• mUM patient biopsies pre and post treatment with tebentafusp

  The dataset includes 141 RNA-seq samples form mUM patietns. Tumour biopsies were obtained from uveal melanoma patients pre and post treatment with tebentafusp. Biopsies, which were either snap frozen or put in RNA later, were analysed by bulk RNA sequencing (50 million reads per sample) using the Illumina NovaSeq system.

  Dataset EGAD50000001258

• Paired RNA sequencing of Thymic epithelial tumors - Additional Dataset

  Paired RNA sequencing of additional samples of Thymic epithelial tumors. Uploaded are the paired fastq files, sequencers were Illumina HiSeq 2500, HiSeq 4000, NovaSeq 6000 and HiSeq X Ten. The kits used were Illumina Truseq RNA and Illumina Truseq stranded mRNA.

  Dataset EGAD50000000324

• 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

• SNP_array

  33 ETMR samples were genotyped using Illumina HumanOmni2.5M array. Hybridization and scanning was done according to the manufacturer's instructions (Illumina). Copy number (Log R) and B allele frequency estimates were obtained sing the Genotyping module (v1.9.4) in GenomeStudio v2011.1 (Illumina). Normalized and log2-transformed copy number measurements were imported from genomestudio and analysed using R package CopyNumber to identify segments with similar copy number.

  Dataset EGAD00010001667

• Paired RNA-Seq of Tumor Organoids from glioblastoma, 2 patients, treated with different small molecule inhibitors

  Tumor Organoids from glioblastoma, 2 patients, treated with different small molecule inhibitors. Paired RNA-Seq was done on NovaSeq 6000 with the Illumina TruSeq stranded mRNA Kit. The small inhibitors GW2580, BLZ945 and PLX3397 were used. DMSO was used as control.

  Dataset EGAD00001011274

• Analyses of RNAseq data from NEN patient derived tumor organoids (PDTOs) and matched parental tumors

  The dataset includes RNA-seq expression R data, RNA-seq gene counts matrix, and RNA-seq gene FPKM matrix from 21 NEN tumors or metastases and matched PDTOs. The sequencing was done with either a Nextseq 2000 or a NovaSeq 6000 instrument.

  Dataset EGAD00001009994

• Single cell RNA-sequencing of treatment naïve PDAC patient samples

  Single cell RNA-sequencing of treatment naïve PDAC patient samples. We have 10 samples, sequenced using the 10X genomics chromium platform with 3 prime chemistry. We are submitting FASTQ files representing the index files (I1), Read1 (R1) and Read2 (R2).

  Dataset EGAD00001008961

• WES Melanoma subtypes

  The dataset include sequencing data from 23 patients diagnosed with metastatic melanoma. The 23 metastatic melanoma subtypes consisted of cutaneous melanoma (CM, n=10); head and neck melanoma (HNM, n=7); uveal melanoma (UM, n=4); acral lentiginous (AM, n=1) and mucosal melanoma (MM, n=1).

  Dataset EGAD00001008336

• A life history of colorectal cancer metastases

  Multiple metastatic sites were sampled at autopsy from four patients diagnosed with metastatic colorectal cancer and subjected to whole-genome sequencing using the Illumina HiSeq X Ten platform to identify somatic variants, structural rearrangements and mutational signatures. The number of tumour samples per patient ranged from 6 to 66.

  Dataset EGAD00001007503

• Single-cell RNA sequencing of acute myeloid leukemia patients

  Single-cell RNA sequencing was performed on bone marrow mononuclear cells from 8 acute myeloid leukemia patients at diagnosis. The profiling was performed using 10x Genomics 3' (5 samples) and 5' (3 samples) platforms. The raw data are available as fastq files.

  Dataset EGAD00001006173

• Whole Exome Sequencing of 5 FFPE prostate samples (normal and tumour pairs) to identify mutations

  Whole Exome Sequencing was performed on radical prostatectomy formalin-fixed paraffin-embedded sample pairs (n = 6). Library prep was done by exon capture using the Illumina Truseq Exome kit and sequenced as 75bp paired end on Illumina NextSeq 500. Sequences were aligned to the human genome (hg38) using BWA.

  Dataset EGAD00001006107

• Genomic profiling of patient-derived xenograft models of myxoid liposarcoma either sensitive or resistant to trabectedin

  The dataset consists of two patient-derived xenograft model of myxoid liposarcoma one sensitive and one resistant to trabectedin. Both models underwent the same treatment schedule with trabectedin (tree time points and one treatment with doxorubicin). We performed genomic profiling using Agilent OneSeq assay.

  Dataset EGAD00001005099

• The transcriptome and DNA methylome profiling of the early human post-implantation embryos

  whole genome sequencing data of parent blood samples. Single cell full-length RNA-seq and PBAT-Seq data of in vitro culture D6 to D14 human embryo.

  Dataset EGAD00001005137

• 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

• Whole genome sequencing of primary and metastatic high risk prostate cancer.

  The total of 381 samples consist of 158 primary tumour samples, 46 metastasis samples and 177 whole blood samples. All sequencing was carried out on illumina HiSeq X Ten or HiSeq 2000 systems and were mapped to hg19 using BWA. The resulting BAM files were sorted by Samtools.

  Dataset EGAD00001004182

• A108879A

  Whole genome sequencing for single cells for library A108879A 1567 cells; filetype=bam

  Dataset EGAD00001007093

• Whole genome sequencing of single cells identifies stochastic aneuploidies, genome replication, states, and clonal repertoires for library for library A95728A

  Transposase-based amplification-free single-cell genome direct library preparation in nanowell chips; 844 samples; filetype=bam

  Dataset EGAD00001004758

• Rearrangements of the MAST Kinase and Notch Gene Families in Breast Cancer

  Paired-end transcriptome sequencing was performed on a panel of breast cancer cell lines and tissues and a set of benign cell line and tissue controls. Analyses of the paired end sequences were performed and chimeric transcripts derived from gene rearrangement events were identified. Sequencing was performed on Illumina GAII and HiSeq 2000 platforms with read lengths from 40 to 100 bases.

  Study phs000513

• Transcriptomic Profiling of Bulk Tissue and Laser-Capture Microdissected Neurons of Postmortem Human Brains in the Superior Temporal Gyrus

  We performed RNA-Seq on bulk tissue and laser-capture microdissected (LCM) neurons from 59 postmortem human brains in the superior temporal gyrus (STG) to investigate Autism Spectrum Disorder (ASD)-associated transcriptomic changes. We examined post-mortem brain tissue from 27 subjects with ASD and 32 neuro-typical controls. Raw RNA-Seq data in FASTQ format are provided.

  Study phs003208

• Phylogenetic analysis of combined lobular and ductal carcinoma of the breast

  Breast cancer manifests in diverse forms, with particular reference to various cell types harboring different mutations and gene expression profiles. To elucidate the clonal relationship between cancer cells in tumors composed of both ductal and lobular phenotypes, we analyzed two combined lobular and ductal carcinoma (CLDC) cases, including one mixed ductal-lobular carcinoma (MDL) lesion, by next generation sequencing.

  Study JGAS000300

• To reveal the spectrum of gene mutations in grade II/III gliomas, whole exome sequencing of 52 samples including 4 multi-regional and 10 multi-time points sampling cases and 293 SNP-array were performed.

  To reveal the spectrum of gene mutations in grade II/III gliomas, whole exome sequencing of 52 samples including 4 multi-regional and 10 multi-time points sampling cases and 293 SNP-array were performed. Our analysis revealed high degrees of temporal/spatial heterogeneity generated during tumor expansion and relapse.

  Study EGAS00001001045

• scWGBS data and analysis

  Data and analysis of single cell whole genome bisulfite sequencing assay of Lin- CD34+ CD38- sorted live cells from bone marrow tissue of 7 patients with MDS or AML (before treatment with 5-azacytidine). Data files are paired-end reads in FASTQ format from the Illumina HiSeq 2500 and HiSeq X sequencers. Analysis files are text files generated from Novomethyl reflecting the number of methylated reads per CpG, with the following columns: chr, start, end, percent_meth, num_methylated, num_total.

  Dataset EGAD50000001374

• 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

• 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

• Profiles of extracellular miRNA in cerebrospinal fluid and serum from patients with Alzheimer's or Parkinson's disease correlate with disease status and features of pathology

  We profiled the miRNA contents from cerebrospinal fluid and serum (using next generation sequencing) from postmortem patients diagnosed with Alzheimer's or Parkinson's disease, and neurologically normal controls. All biofluids were cell-free and patient matched, there was one cerebrospinal fluid and one serum sample from each of 70 patients with Alzheimer's disease, 67 patients with Parkinson's disease and 78 age-similar controls. We correlated the miRNA changes with measurements of neuropathology such as plaques, tangles and Lewy bodies.

  Study phs000727

• Mutation signatures in melanocytic nevi reveal characteristics of defective DNA repair

  Nevi are common benign melanocytic neoplasms that can be found on any skin location and share many of the genomic hallmarks of melanoma. In our recent report involving whole-exome sequencing of acquired nevi (Stark et al., 2018), ultra-violet radiation (UVR) related somatic mutation signatures (“signature 7”) (Alexandrov et al., 2013) were frequently observed in all lesions that were located on sun-exposed sites. In the study presented herein, we sought to investigate whether an independent Spanish cohort (Valencia, Spain) of minimally sun exposed nevi had genomic features consistent with our previous findings.

  Study EGAS00001004274