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• Tumour sample for patient SA610

  Whole genome sequencing of tumour sample for triple negative breast cancer patient SA610

  Dataset EGAD00001009617

• Normal sample for patient SA416

  Whole genome sequencing of normal sample for triple negative breast cancer patient SA416

  Dataset EGAD00001009618

• Normal sample for patient SA1070

  Whole genome sequencing of normal sample for triple negative breast cancer patient SA1070

  Dataset EGAD00001009619

• Tumour sample for patient SA1070

  Whole genome sequencing of tumour sample for triple negative breast cancer patient SA1070

  Dataset EGAD00001009620

• Tumour sample for patient SA997

  Whole genome sequencing of tumour sample for triple negative breast cancer patient SA997

  Dataset EGAD00001009621

• Whole genome sequencing analysis of hepatoblastoma

  Whole genome sequencing analysis of pediatiric liver tumor, hepatoblastoma, and their genomic and epigenomic features.

  Study JGAS000156

• Genomics_of_Colorectal_Cancer_Metastases___Massively_Parallel_Sequencing_of_Matched_Primary_and_Metastatic_tumours_to_Identify_a_Metastatic_Signature_of_Somatic_Mutations__MOSAIC_

  Exome pulldown and SNP6 Affymetrix array of matched primary and metastatic colorectal cancer samples from 20 patients

  Study EGAS00001000103

• Organoid_Derivation_Project__TGS

  Sequencing of tissue samples and their derived organoids from oesophageal, pancreatic and colorectal cancer patients.

  Study EGAS00001002221

• FWO_project_G_0687_12_X10_WGS

  Profiling subclonal architecture and phylogeny in tumors by whole-genome sequence data mining and single-cell genome sequencing

  Study EGAS00001001145

• Whole exome sequencing of PMBCL

  Whole exome sequencing of 8 PMBCL samples and paired normal samples and 14 unpaired PMCL samples.

  Study EGAS00001006235

• Duplex Sequencing of normal and tumor tissues from case 2 and case 3 (10 DS)

  Duplex Sequencing of normal and tumor tissues from case 2 and case 3 (10 DS)

  Dataset EGAD50000000239

• Single cell RNA sequencing of synovial B cells in early Rheumatoid Arthritis

  This dataset includes 3432 paired single cell sequencing fastq files derived from synovial B cells of 5 early Rheumatoid Arthritis patients. Libraries were prepared using the SmartSeq2 protocol. All wells contained ERCC spike-ins. Libraries were sequenced on an Illumina NovaSeq instrument with 2x100bp paired-end reads yielding a median of 2.5M reads/well. Sample aliases ending on 368 and 384 represent empty control wells. Sample aliases starting with P11417_4 and P13157_1 belong to ACPA- patient A7, sample aliases starting with P11417_5 and P11417_6 belong to ACPA+ patient A1, sample aliases starting with P13157_2 belong to ACPA- patient A3, sample aliases starting with P13157_3 and P13157_6 belong to ACPA+ patient A2, sample aliases starting with P13157_4 and P13157_5 belong to ACPA- patient A4.

  Dataset EGAD00001009076

• RNA sequencing of Non-Small Cell Lung Cancer and adjacent normal tissue

  RNA sequencing was performed on 108 NSCLC tumor samples and their paired adjacent normal tissues (n=21) to identify associations with clinical and immune characteristics.

  Study EGAS50000000246

• Whole-genome DNA methylation profiling of CD14+ monocytes reveals disease status and activity differences in Crohn’s disease patients

  Identifying differences in CD14+ monocyte methylation between CD and non-CD patients, as well as between CD-active and CD-remissive patients.

  Study EGAS00001004221

• Genomic WES plasma control samples

  This datasets consists os genomic WES of paired-end raw data (FASTQ R1, R2 and UMI sequence) obtained from plasma and HapMap control samples. Specifically, it consists in two Hapmap samples (NA12877, NA12878) and 2 plasma standarts (HD780 and HD816) with VAF mutations at 0.0%, 0.1%, 1.0%, and 5.0%, in total 21 plasma samples.

  Dataset EGAD50000000805

• single cell data from HPV-positive head and neck cancer patients receiving induction CTLA-4 and PD-1 immune checkpoint blockade

  Baseline and on-treatment tumor samples from human papillomavirus-positive oropharynx cancer patients receiving anti-CTLA-4 and anti-PD-1 immune checkpoint blockade were analyzed by single-cell RNA and TCR sequencing.

  Dataset EGAD50000000487

• Shallow whole genome sequencing of FOCUS study

  Shallow whole genome sequencing of tumors from patients included in the FOCUS clinical trial. performed to calculate assocations of irinotecan with copy-number alterations.

  Study EGAS00001007609

• RIP-seq of SF3B4 binding RNA fragments

  There are 2 paired samples. The project aims to characterize SF3B4 binding RNA fragments within liver organoids to understand its role in splicing regulation

  Study EGAS50000001129

• NGS_based_viability_screening_using_haploid_cell_line

  Identification of human deubiquitylating enzymes whose knock out result in hypersensitivity to DNA damaging agents, by comparing the sequence reads of ‘barcode region’ from mixed cell culture.

  Study EGAS00001001095

• Whole genome sequencing of ATCWGS42

  WGS of patient ATCWGS42, a patient who responded to BRAF/MEK targeted therapy but relapsed. This folder includes multi-region sequencing from the patient.

  Study EGAS50000001489

• Matched_Pair_Cancer_Cell_line_Whole_Genomes

  We propose to definitively characterise the somatic genetics of 29 matched pair cell lines through generation of comprehensive catalogues of somatic mutations by high coverage genome sequencing.

  Study EGAS00001000160

• Regulatory Elements active in Insulinomas

  Characterization of regulatory elements active insulinomas, assessed by the presence of H3K27ac. This study also includes characterization of H3K27me3 in control pancreatic beta cells.

  Study EGAS50000000319

• Congenital_Heart_Disease___Pilot

  This pilot study aims to generate pilot data to inform future study designs by resequencing the whole exomes of 10 unrelated individuals diagnosed with Congenital Heart Disease (CHD).

  Study EGAS00001000425

• circulating-tumor DNA sequencing of healthy samples

  In this study we have sequenced the TP53 gene (exons) from circulating-tumor DNA of 125 controls samples. Each ctDNA samples was sequenced independently twice.

  Study EGAS00001003989

• Homopolymer switches WES dataset

  This project used NGS (next generation sequencing) in mismatch repair deficient colorectal cancer samples. The project investigated the role of secondary MMR (mismatch repair) gene mutations in tumor evolution. This dataset includes BAM files from multi-region Whole Exome Sequencing of 49 samples from 22 patient tumors.

  Dataset EGAD50000000319

• RNA bam files of Renal Cell Carcinoma patients

  the dataset contains RNA bam files of Renal Cell Carcinoma patients, which belongs to "An Empirical Approach Leveraging Tumorgrafts to Dissect the Tumor Microenvironment in Renal Cell Carcinoma Identifies Missing Link to Prognostic Inflammatory Factors"

  Dataset EGAD00001003895

• Breast cancer sequential sampling study

  This study aims to whole genome sequence DNA derived from breast cancer patients who received neo-adjuvany chemotherapy. All patients had multiple biopsies performed before chemotherapy. Patients who had residual disease after the course of treatment underwent a further biopsy. We aim to characterise the mutations involved.

  Dataset EGAD00001000387

• WES data of one tumor of B-cell lymphoma

  paired EXOME sequencing on Illumina HiSeq 4000 using Agilent SureSelect V6 of one tumor sample of one patient with B-cell lymphoma. The bam-file was mapped to the hg19 genome.

  Dataset EGAD00001006060

• Convergent genetic adaptation in human tumors developed under systemic hypoxia and in populations living at high altitudes

  Genomic files, including whole-exome and RNA-seq data from tumors and cell lines, were generated and analyzed in this study.

  Dac EGAC50000000484

• PE-META-EUROPE_CENTRAL_ASIA-MATERNAL

  Fixed effect meta-analysis summary statistics combining GWAS of maternal preeclampsia cases and controls from Europe (UK, Iceland, Norway, Denmark and Finland) and Central Asia (Kazakhstan and Uzbekistan).

  Dataset EGAD00010001988

• PE-META-EUROPE_CENTRAL_ASIA-FETAL

  Fixed effect meta-analysis summary statistics combining GWAS of fetal (baby) preeclampsia cases and controls from Europe (UK, Iceland, Norway, and Denmark) and Central Asia (Kazakhstan and Uzbekistan).

  Dataset EGAD00010001983

• Systemic analysis of cutaneous and uveal melanoma liver metastases

  RNAseq and WES of liver metastases samples (resections and biopsies) of CM and UM patients

  Dataset EGAD00001006577

• Transcriptome sequencing of fibroblast-dependent alveolar organoids derived from patient-specific iPS cells with SFTPC^Y104H variant and their gene-corrected (monoallelic wild type SFTPC) ones.

  A disease-specific iPS cell line derived from a pulmonary fibrosis patient with SFTPC^Y104H and its gene-corrected (monoallelic wild type SFTPC) one were established. Then lung progenitor cells were differentiated from each cell line and co-cultured with human fetal lung fibroblasts to generate alveolar organoids, respectively. Alveolar epithelial cells and fibroblasts were isolated by fluorescence-activated cell sorting and each RNA was extracted. We performed transcriptome analysis of those samples by RNA-sequencing.

  Study JGAS000617

• Mutational landscape of high-grade B-cell lymphoma with MYC-, BCL2 and/or BCL6 rearrangements characterized by whole-exome sequencing

  To inform on oncogenic drivers, mutational signatures and perturbed pathways in HGBL-DH/TH in comparison with diffuse large-B-cell lymphoma (DLBCL) and Burkitt lymphoma (BL), we performed whole-exome sequencing and confirmatory deep panel NGS of 47 clinically annotated cases. Coupled germline DNA was analyzed when available.

  Study EGAS00001005420

• Whole exome sequencing of trio with primary immunodeficiency (IL2RB)

  A novel homozygous mutation in human IL2RB results in decreased IL-2RB protein expression and dysregulated IL-2/15 signaling. This hypomorphic mutation leads to decreased regulatory T cell frequency and abnormal NK cell compartment, with clinical manifestations of autoimmunity and susceptibility to CMV.

  Study EGAS00001003599

• Tumor intrinsic and extrinsic mechanisms of response and resistance to blinatumomab in relapsed/refractory acute lymphoblastic leukemia

  Key Points• Multiple mechanisms of acquired CD19 mutations and splicing contribute to CD19 loss and relapse to blinatumomab.• Identification of CD19 ex2part levels represents a new biomarker predictive of resistance or likely failure of blinatumomab

  Study EGAS00001004027

• Target sequencing 462 mRNAs and 97 antibodies on Fresh thawed ice and on CD34+ immature cells

  Targeted sequencing with 462 mRNA and 97 antibodies of fresh, frozen and stored on ice (6h) healthy adult blood cells. Multiplexed sample fresh thawed ice SMK1-Frozen, SMK2-thawed, SMK3-fresh and Targeted sequencing with 462 mRNA and 197 antibodies of CD34+Immature cells Multiplexed sample CD34+ immature Abseq SMK4-CD38+CD45RA-, SMK5-CD38+CD45RA+, SMK6-CD38-CD45RA+/-

  Dataset EGAD00001008190

• Multifocal_Breast_Project

  Comparison of genomic rearrangements and DNA methylationpatterns between different foci of multiple synchronous(multifocal and multicentric) invasive breast cancers

  Study EGAS00001000004

• Different malignant tumor samples including lung cancer, colon cancer and breast cancer.

  Genomic DNA was purified from tumor cells and normal cells in cancer patients; We sequenced those genomic DNAs using 10X Genomics sequencing technologies, and analyzed genomic structural variations.

  Study JGAS000360

• Early and Late Onset Colorectal Cancer Genomic Data

  A clinically and genomically annotated Early onset colorectal cancer and late onset colorectal cancer. This study aimed to identify genomic characteristics of early-onset colorectal cancer (EOCRC) compared to late-onset cases. Whole-genome sequencing (WGS) was performed on EOCRC and late-onset colorectal cancer (LOCRC) tissues and blood samples to analyze their genomic profiles.

  Dataset EGAD50000000774

• IBMsnRNAseq

  snRNA-seq and spatial transcriptomic data and analysis of healthy (CTRL) and inflamed (immune-mediated necrotizing myopathy (IMNM) and inclusion body myositis (IBM)) human quadriceps muscle. This data set includes 19 snRNA-seq (7 CTRL, 4 IMNM, 8 IBM) and 8 ST samples (3 CTRL, 2 IMNM, 3 IBM).

  Dataset EGAD50000000449

• MIBC NAC2020 cohort RNA sequencing

  The dataset contains RNA sequencing data from N=48 transurethral resections of bladder tumours (TURBTs) from N=48 patients with muscle-invasive bladder cancer who were treated with neoadjuvant chemotherapy followed by radical cystectomy. All TURBTs originate from formalin-fixed paraffin embedded tissue. We used the Illumina TruSeq RNA exome kit, previously known as the TruSeq RNA Access Library Prep Kit. This kit converts total RNA into template molecules of known strand origin, followed by sequence-specific capture of coding RNA. All samples were run in an Illumina NovaSeq6000 instrument. Paired FASTQ files from all 48 patients are provided.

  Dataset EGAD50000001025

• Multiregion Sequencing of Localized Prostate Cancer

  Ten patients with treatment-naïve, locally advanced or localized prostate cancer underwent radical prostatectomy. Pathological stage ranged from T2aN0 to T3bN1, and Gleason scores from 3+4 to 4+5. Tumor foci were mapped, and DNA was extracted from multiple (5-9) regions from a single, contiguous index focus. Whole exome sequencing was performed to identify single nucleotide variants and indels, and low coverage whole genome sequencing was performed to estimate copy number variation. Phylogenetic relationships between foci was determined, and alterations associated with advanced disease or response to targeted therapy were identified.

  Study phs001465

• ICGC Breast Cancer Project

  A comprehensive characterisation and analysis of human breast cancers through genome-wide approaches including genomics, transcriptomics and epigenomics.

  Study EGAS00001001195

• PCNSL single-cell dataset

  This dataset includes 4 samples with scRNA-seq and 3 sample with CITE-seq, scTCR-seq and scBCR-seq.

  Study EGAS50000000474

• Complex structural variation patterns in pediatric solid tumors

  In this study, we performed systematic characterization of chromoplexy, chromothripsis and extrachromosomal DNA across five types of pediatric solid tumors: neuroblastoma, Ewing sarcoma, Wilms tumor, hepatoblastoma and rhabdomyosarcoma. Almost half of all tumors had at least one complex SV and we identified candidate pathogenic events that affect genes or chromosomal alterations known to be relevant in these cancer types. In conclusion, complex SVs are prevalent and highly pathogenic in pediatric solid tumors.

  Study EGAS00001007565

• Single-cell multi-omics and mtDNA genotyping of human peripheral blood cells

  In this study, we characterize human peripheral blood cells using mitochondrial single-cell ATAC-seq (mtscATAC-seq), which simultaneously profiles mitochondrial genomes and chromatin accessibility at single-cell resolution. This submission includes PBMCs from one healthy pediatric donor and one 80-year-old patient diagnosed with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome.

  Study EGAS50000001020

• Evolutionary analysis of pancreatic neoplastic cysts through whole-exome and targeted sequencing

  Intraductal papillary mucinous neoplasms (IPMNs) and mucinous cystic neoplasms (MCNs) are non-invasive neoplasms that are often observed in association with invasive pancreatic cancers, but their origins and evolutionary relationships are poorly understood. In this study, we analyzed 148 samples from IPMNs, MCNs, and small associated invasive carcinomas from 18 patients using whole exome or targeted sequencing.

  Study EGAS00001004473

• Optimized Polyepitope Neoantigen DNA Vaccines Elicit Neoantigen-Specific Immune Responses in Preclinical Models and in Clinical Translation

  A patient with Lynch syndrome and a neuroendocrine tumor sequenced with exome, whole genome, and bulk RNAseq. Sequence data was used to create a personalized cancer vaccine.

  Study phs002342

• Case Study of Acquired Resistance to FGFR Inhibition in Cholangiocarcinoma using Targeted DNA and RNA Sequencing

  Targeted sequencing was performed on blood, tumor, and cell free DNA samples from an FGFR2-fusion positive cholangiocarcinoma patient before and after treatment with an FGFR targeted therapy.

  Study phs001924