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• RNA-seq of iPSC-derived neurons treated with miRNA mimics and inhibitors

  iPSC-derived neurons were treated with mimics and inhibitors of the miRNAs miR-150-5p, hsa-mir-193a-3p and hsa-miR-19b-3p. RNA-sequencing was then performed to examine the effects of miRNA up-regulation and inhibition.

  Dataset EGAD00001006844

• Khoe-San whole genome sequencing

  High-coverage (>30X) whole genome data (FASTQ) for 25 southern African Khoe-San individuals (from five populations). These are the same individuals as in Schlebusch et al. 2020 (EGAD00001006183), but different data.

  Dataset EGAD50000001559

• Bulk RNA-sequencing data from 9 cHL cell lines

  The dataset contains raw data of 27 bulk RNA-sequencing data from 9 cHL cell lines. Paired-end fastq with polyA capture are available for each cell line.

  Dataset EGAD50000001271

• Peripheral T cell lymphoma (PTCL) Shallow Whole Genome Sequencing

  Shallow Whole Genome Sequencing (sWGS) of 148 FFPE DNA samples from peripheral T cell lymphoma (PTCL) samples. Assoicated with the "Molecular biomarkers for stratification peripheral T cell lymphoma" study.

  Dataset EGAD50000001146

• Whole exome sequencing of two BPDCN patients for tracing clonal evolution

  Whole exome sequencing data was mapped to GRCh38 using bwa-mem2 as implemented in the nfcore sarek workflow.

  Dataset EGAD50000000309

• Expression profiling of pediatric brain tumors Embryonal Tumor with Multilayered Rosettes (ETMR)

  RNA was prepared using the IlluminaTruSeq RNA sample preparation kit for poly-adenylated mRNA with an average of 97.64 million reads per sample respectively

  Dataset EGAD00001004803

• FASTQ Files for Human LV H3K27ac ChIP-seq

  This dataset contains 70 human LV H3K27ac ChIP-seq paired-end FASTQ files. The sequencing was performed using Illumina Hiseq 4000.

  Dataset EGAD00001004945

• Whole Genome Sequencing of Normal Singaporean Volunteers

  Whole-genome sequencing (WGS) data for 546 Singaporean volunteers used to estimate WGS-LTL in the study. Samples were sequenced using Illumina Hiseq X to a mean coverage of 30X.

  Dataset EGAD00001005480

• long RNA data

  long RNA data for 27 CLL samples (8 controls, 19 tumor) of the CancerEpiSys-PRECiSe project.

  Dataset EGAD00001005968

• Pharmacological improvement of CFTR function rescues airway epithelial homeostasis and host defense in children with cystic fibrosis

  This dataset encompasses single-cell RNA sequencing data derived from nasal swabs of a paired cohort of school-aged children with cystic fibrosis. The study includes samples both before (n=13) and after initiation (n=13) of elexacaftor/tezacaftor/ivacaftor (ETI) treatment. Additionally, age- and sex-matched controls were included (n=12). Detailed information about the study design and methodology can be found in the manuscript: “Pharmacological improvement of CFTR function rescues airway epithelial homeostasis and host defense in children with cystic fibrosis”.

  Dataset EGAD50000000173

• RNA-seq of whole blood and PBMC samples from immunotherapy treated NSCLC patients

  This dataset contains 228 paired fastq files sequenced with Illumina Novaseq 6000, and the file with the sample and clinical data.

  Dataset EGAD50000000389

• Whole-exome sequencing data from a head and neck cancer patient

  This dataset contains paired-end whole-exome sequencing data (2x50 bp) from the normal sample, three synchronous primary tumors and the recurrence of a head and neck cancer patient.

  Dataset EGAD00001006653

• Genome-wide array data Tunisia and Morocco

  This dataset contains genome-wide array data from Tunisian and Moroccan individuals. Tunisian individuals were sampled in the city of Tunis (n = 64), and Moroccan individuals in different urban areas in the country (n = 45).

  Dataset EGAD00001009071

• arrayCGH for copy number profiling on tumor DNA from pediatric cancer tissue samples

  This dataset contains arrayCGH (HumanCytoSNP 850k and HumanCytoSNP v12.1) data from tumor DNA samples of various pediatric cancer entities. Files are provided in IDAT format and as text files processed with GenomeStudio 2.0.

  Study EGAS00001005197

• Fetal origins of malignant germ cell tumours

  Germ cell tumours (GCTs) are a collection of benign and malignant neoplasms derived from primordial germ cells (PGCs). They are uniquely able to generate embryonic and extraembryonic tissues, which in malignant GCTs carries prognostic and therapeutic significance. The developmental pathways underpinning GCT initiation and histogenesis are incompletely understood. Here, we studied the phylogenetic and transcriptional diversity of 15 malignant gonadal GCTs and four normal testis biopsies by sequencing 131 whole genomes and 416 transcriptomes from 14 gonadal histologies, excised by laser capture microdissection. Our findings demonstrate that tumours were initiated by whole genome duplication likely in embryogenesis, within ~5-8 cell divisions post-PGC specification, followed by chromosome 12p gains associated with invasive disease. Of note, 12p imbalances were not only generated through GCT-typical isochromosomes, but also through non-isochromosomic configurations. Whilst tumours developed along homogenous phylogenetic pathways, they spawned manifold tissues independent of genetic subclonal diversification. A key feature of GCT tissues was the expression of fetal-specific genes. The transcriptional diversity notwithstanding, we found universal transcriptional elements correlated with hallmark 12p gains. Overall, our study reveals stereotyped phylogenies and transcriptomes underpinning the development of GCT that originate in fetal life and may lend themselves to therapeutic manipulation.

  Dataset EGAD00001007038

• Whole exome sequencing of pediatric soft tissue sarcoma PDX models

  Childhood cancer remains one of the leading causes of death in pediatric patients in Europe. Pediatric sarcomas, comprising soft tissue sarcomas and malignant bone tumors, are a heterogenous group of malignancies, with more than 50 subtypes (WHO classification). Due to low case numbers, studying pediatric sarcomas requires accurate and reliable preclinical models. Here, we established 18 soft tissues sarcoma PDX models, including Ewing Sarcoma, Rhabdmyosarcoma and Osteosarcoma. We characterized these models by Whole Exome Sequencing and assessd the response to a wide range of drugs.

  Study EGAS50000000048

• Whole genome sequencing, DNA methylation, and gene expression data from gastrointestinal stromal tumor 30 patients

  We performed WGS along with genome-wide DNA methylation and gene expression analyses in 30 GIST cases to determine the genomic and epigenomic differences between KIT exon 11 557���558 deletions and other KIT exon 11 mutations.

  Study JGAS000604

• Whole genome amplification and whole genome sequencing of human single cells

  Human single fibroblasts and T-lymphocytes were amplified using multiple annealing and looping-based amplification and multiple displacement amplification. Amplified products were next subjected to whole genome sequencing with the goal of performing a genetic variant analysis.

  Study EGAS00001003108

• Prospective cohort patients with Multiple sclerosis and controls

  The sys4MS cohort comprises 350 patients with Multiple Sclerosis (MS) and 9 controls, with 2 years of follow-up. Baseline data includes demographics, clinical scales, disease duration and subtype and use of disease-modifying drugs, brain MRI (volumetry and lesion load), retinal thickness by OCT, genomics (GWAS), cytomics, and phosphoproteomics. Data at the end of follow-up includes clinical scales, brain MRI and OCT.

  Dataset EGAD00010002505

• Human T-bet governs innate and innate-like adaptive IFN-g immunity against mycobacteria.

  We report a patient with mycobacterial disease due to inherited deficiency of the transcription factor T-bet. PBMCs from the patient and his heterozygous father were analyzed with scRNA-seq. these represent 2 single cell RNA samples generated using the 0xGenomics technology and being processed through cell ranger.

  Dataset EGAD00001006623

• ALS-FTD brain motor cortex single-nucleus RNA-seq of NeuN+ nuclei sorted for TDP-43 low vs. high

  A dataset of single-nucleus RNA-seq data of nuclei from the post-mortem human primary motor cortex from patients with ALS-FTD. The nuclei were sorted by flow cytomotetry into NeuN+ (neuronal) TDP-43 low vs. TDP-43 high fractions.

  Dataset EGAD50000002243

• Total RNAseq data from 8 patients with muscle invasive bladder cancer

  For this dataset we performed total RNAseq on blood samples from 8 patients with muscle invasive bladder cancer. The data consists of 8 sets of paired fastq files with accompanying UMI fastq files. Sequenced on the Illumina NoveSeq6000 platform using S2 flow cells (v1.5,2x150 cycles), with a mean yield of 313 million reads.

  Dataset EGAD50000001380

• NIHR BioResource Rare Diseases WGS project - Hypertrophic Cardiomyopathy (HCM) Rare Disease domain (VCF data)

  Short read whole genome sequencing (WGS) VCF files for the NIHR BioResource Rare Diseases WGS project – Participants from the Hypertrophic Cardiomyopathy (HCM) Rare Disease domain

  Dataset EGAD00001007885

• Exome sequencing of lung tissue conducted in SMC

  The data includes exome sequencing FASTQ files of 335 patients receiving immune checkpoint blockade therapy. The data only provides for WXS of tumor tissue.

  Dataset EGAD00001009101

• MSC_busulfan_small_intestine_organoids

  This dataset represent the RNA-seq, which was done on untreated small intestinal organoids; small intestinal organoids treated with chemotherapeutic, busulfan; untreated small intestinal organoids co-cultured wth mesenchymak stromal/stem cells (MSCs; busulfan treated small intestinal organoids co-cultured with MSCs. The same set of samples was done for 3 different primary bone marrow MSC donors.

  Dataset EGAD00001011176

• BipEx_Timpson_Bristol

  "BipEx_EGAS00001006274_Timpson_Bristol Controls Exomes. This research project was a collaboration between University of Bristol, UK and the Stanley Center at the Broad Institute. In this project we sequenced and analyzed the whole exomes of 2,981 Control samples from collaborators in UK. Genomic DNA from each sample was sequenced to a mean depth of 20x."

  Dac EGAC50000000144

• Single-nucleus ATAC sequencing of the human motor cortex

  Single-nucleus ATAC-sequencing of the human motor cortex in patients with ALS, C9ORF72-ALS-FTD, ALS-FTD and unaffected controls.

  Study EGAS50000001563

• Single-nucleus transcriptome sequencing of the human motor cortex

  Single-nucleus RNA-sequencing of the human motor cortex in patients with ALS, C9ORF72-ALS-FTD, ALS-FTD and unaffected controls.

  Study EGAS50000001562

• The molecular landscape of colorectal cancer reveals genetic mutations.

  We performed whole-exome sequencing of tumor samples and adjacent normal mucosae from 46 patients to characterize the genetic alterations in China.

  Study EGAS00001001893

• The molecular landscape of colorectal cancer （17 cases）

  We performed whole-exome sequencing of tumor samples and adjacent normal mucosae from 17 cases to characterize the genetic alterations in china.

  Study EGAS00001002174

• The molecular landscape of colorectal cancer （5 cases）

  We performed whole-exome sequencing of tumor samples and adjacent normal mucosae from 5 patients to characterize the genetic alterations in china.

  Study EGAS00001002374

• MBL2 genetic variation in critical Covid-19

  The data set includes MBL2 genotypes and clinical phenotypes of a cohort of patients with critical Covid-19. The files included in the data set include a vcf file with single nucleotide variants, and a file with clinical phenotypes.

  Dataset EGAD00001008771

• Broad utility of ultrasensitive analysis of ctDNA dynamics across solid tumors treated with immunotherapy

  Prior studies have suggested the biomarker potential of plasma circulating tumor DNA (ctDNA) in cancer patients treated with immune checkpoint inhibitors (ICIs). In order to characterize the potential role of ultrasensitive ctDNA detection in the management of these patients we have performed tumor whole-genome-informed, ultrasensitive ctDNA analysis—tracking approximately 1,800 tumor-specific mutations per patient—in a retrospective cohort (n=136) and a prospective validation cohort (n=66) across 24 cancer types treated with ICIs alone or in combination with bispecific antibodies or immune cell engagers. Analyzing 1,455 longitudinal samples, we found that ctDNA molecular response measured as early as 3 weeks after treatment initiation correlated with improved progression-free and overall survival, while ctDNA clearance at any time strongly correlated with radiological response and prolonged survival. Additionally, ctDNA dynamics distinguished true progression from pseudoprogression and predicted outcomes in patients receiving continued immunotherapy beyond initial progression. This study highlights the broader applicability of ultrasensitive ctDNA as a biomarker across cancer types and immunotherapy modalities.

  Study EGAS50000001333

• Whole exome sequencing of familial MDS, Two patients

  Although several causal genes of familial myelodysplastic syndromes (MDS) have been identified, the genetic landscape and the molecular pathogenesis are not totally understood. To explore novel driver genes and their pathogenetic significance, we performed whole exome sequence analysis of two individuals from a familial MDS pedigree and several candidate single-nucleotide variants were identified. Knockdown screening revealed that downregulation of a candidate gene enhanced colony forming capacity of primary murine bone marrow (BM) stem/progenitor cells. Our results indicate that a familial MDS-associated germline mutation in the candidate gene induces accumulation of DNA double-strand breaks, possibly through impaired PCNA polyubiquitination.

  Study JGAS000162

• Characterization of the oral and gut microbiome of melanoma patients before initiation of ant-PD-1 therapy, and confirmation of the phenotype in germ-free mice

  The oral and gut microbiomes of melanoma patients were characterized before the initiation of ant-PD1 immunotherapy, and compared to treatment response. Validation studies were performed in germ-free mice using stool from patients who responded/did not respond to ant-PD1 immunotherapy. All baseline oral(n=86) and gut (n=43) microbiome samples were subject to 16S sequencing - V4 region ( merged fastq files have been made available through this portal). Whole genome shotgun sequencing (WGS) was performed on a subset of fecal samples (n=25)- these files are also available( paired end reads). Also available are 16S sequencing results of stool samples from donors (n=2) used in fecal microbiota transplant and murine samples (n=12) from germ-free mice transplanted with stool from responder/non-responder patients. The fastq files associated with this dataset are stored at ENA under the following links: Fecal 16S – PRJEB22894 https://www.ebi.ac.uk/ena/browser/view/PRJEB22894 Oral 16S – PRJEB22874 https://www.ebi.ac.uk/ena/browser/view/PRJEB22874 Murine 16S – PRJEB22895 https://www.ebi.ac.uk/ena/browser/view/PRJEB22895 Fecal WGS – PRJEB22893 https://www.ebi.ac.uk/ena/browser/view/PRJEB22893

  Dataset EGAD00001003943

• PacBio long-read scRNA-seq

  Full-length single-cell cDNA PacBio Kinnex whole-transcriptome sequencing data for adrenal sampleA and sampleB.

  Dataset EGAD50000002211

• cqmuGWAS2

  DNA for 2482 individuals from Chongqing was extract from peripheral blood and genotyped by Illumina Omni Zhonghua-8 version 2 gene chips.

  Dataset EGAD00010001526

• Patient 16CH

  One file of patient 16 with WGS done on Illumina HiSeq X-Ten. For research purpose and authorised user only.

  Dataset EGAD00001003440

• Neuroblastoma sequencing data

  This dataset contains tumor and normal whole exome DNA sequence data for a patient with neuroblastoma

  Dataset EGAD00001008120

• 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 291 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 291 SNP-array were performed. Our analysis revealed high degrees of temporal/spatial heterogeneity generated during tumor expansion and relapse.

  Study EGAS00001001044

• E-cadherin inactivation shapes tumor microenvironment specificities in invasive lobular carcinoma

  Invasive lobular breast carcinoma (ILC) shows specific stromal features, T lymphocyte infiltration (TIL) being associated with poor prognosis. Here, we reveal the involved mechanism by performing single cell RNA sequencing, combined immunohistochemistry, deconvolution of bulk RNA sequencing from large retrospective ILC series, and functional assays using primary cells. We show that ILC accumulates FAP+ inflammatory cancer-associated fibroblasts (iCAF) through a previously undescribed mechanism mediated by E-cadherin/CDH1 on CAF plasticity. Indeed, CDH1 inactivation in ILC cancer cells prevents differentiation of iCAF into myofibroblastic CAF (myCAF), leading to iCAF accumulation. In turn, iCAF attract TILs into the tumor center and shape their spatial organization in ILC. Subsequently, CDH1-inactivated ILC cancer cells promote immune escape by lack of retention and activation of ITGAE-expressing resident memory CD8+ T lymphocytes (TRM). Hence, our study uncovers reciprocal interactions between CDH1-inactivated cancer cells, iCAF and CD8+ TRM, gaining insight into the underlying mechanism associated with the distinctive stromal reaction observed in ILC and revealing why and how TILs have a poor prognosis in ILC patients, a mechanism that can be generalized to other CDH1-inactivated cancer types.

  Study EGAS50000001760

• Whole-genome and transcriptome sequencing of NUT midline carcinoma

  In this study, we sequenced three NUT midline carcinoma genomes and their transcriptomes (NMC1, NMC2 and Ty-82), and two paired normal blood samples (for NMC1 and NMC2). Whole-genome sequencing libraries were generated by PCR-free methods, and sequencing run was made in HiSeq X machines. Transcriptome (mRNA) sequencing was performed in HiSeq 2500 machines. PCR duplicates-marked, indel-realigned, and base-recalibrarted BAM files are provided in our dataset.

  Dataset EGAD00001003117

• Genomic Characteristics of Myeloproliferative Neoplasms in Patients Exposed to Ionizing Radiation following the Chernobyl Nuclear Accident

  The study "Genomic Characteristics of Myeloproliferative Neoplasms in Patients Exposed to Ionizing Radiation following the Chernobyl Nuclear Accident" was designed as case-control study. We studied genomic characteristics of chronic Philadelphia chromosome-negative myeloproliferative neoplasm (MPNs) in Ukrainian patients who were previously exposed to Ionizing Radiation (IR) due to Chernobyl accident in comparison to unexposed MPN patients and controls (previously exposed to IR due to Chernobyl accident and unexposed people who were not diagnosed with any oncological condition at the moment of DNA sampling).

  Study phs001761

• Whole_Genome_Sequencing_OMELib__Cord_blood_

  The mutational landscape of haematopoietic cells will be characterized by WGS following amplification of DNA and preparation of libraries by PTA(primary template-directed amplification). Samples have been sourced from the Cambridge Biobank.

  Study EGAS00001007453

• A comprehensive genetic map of cytokine responses in Lyme borreliosis

  A study on the genetic determinants of immune response in patients diagnosed with Lyme borreliosis. Examining the link between genetic variants and cytokine response in more than 1,000 patients.

  Study EGAS50000000024

• Powerful Identification of Cis-regulatory SNPs in Human Primary Monocytes Using Allele-Specific Gene Expression

  The aim of this study was to compare the power to detect associations between SNPs using cis-eQTL mapping and ASE analysis (allele specific expression).

  Study EGAS00000000119

• GWAS genotype data of Japanese

  GWAS genotype data of the Japanese population (N=2,380) were collected at Osaka University and the affiliated medical institutes. GWAS genotyping was performed using Infinium Asian Screening Array (Illumina, USA).

  Study EGAS00001006423

• BipEx-Landen: Bipolar Exome Sequencing

  This research project was a collaboration between the Karolinska Institute and the Stanley Center at the Broad Institute. In this project we sequenced and analyzed the whole exomes of 5,876 Bipolar case/control samples from collaborators in Sweden. Genomic DNA from each samples was sequenced to a mean depth of 20x.

  Dataset EGAD50000000307

• Selected samples from the Boston Children's Hospital Childrens Rare Disease Cohorts initiative

  These are some selected exomes from the first year of the Childrens Rare Disease Cohorts initiative at Boston Children's Hospital. Patients were drawn from the following cohorts: immunodeficiency, epilepsy, IBD, hearing loss, and orphan diseases. Raw sequencing was performed on Illumina NovaSeq 6000 machines, and aligned to hs37d5.

  Dataset EGAD00001006179

• 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