22938 results for "ega"

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• Genome and transcriptome sequence data from a locally advanced oropharyngeal carcinoma patient

  Genome and transcriptome sequence data from a locally advanced oropharyngeal carcinoma patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001004655

• Genome and transcriptome sequence data from a non-small cell lung cancer patient

  Genome and transcriptome sequence data from a non-small cell lung cancer patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001004672

• Genome and transcriptome sequence data from a metastatic adenocarcinoma of the lung patient

  Genome and transcriptome sequence data from a metastatic adenocarcinoma of the lung patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001004673

• Genome and transcriptome sequence data from a metastatic transverse colon cancer patient

  Genome and transcriptome sequence data from a metastatic transverse colon cancer patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001004691

• Genome and transcriptome sequence data from a adenocarcinoma of the liver patient

  Genome and transcriptome sequence data from a adenocarcinoma of the liver patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001004706

• BLUEPRINT release August 2014, RNA-Seq for hematopoietic stem cell

  RNA-Seq data for 3 hematopoietic stem cell sample(s). 8 run(s), 3 experiment(s), 3 alignment(s). Part of BLUEPRINT release August 2014. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811

  Dataset EGAD00001000939

• BLUEPRINT release January 2015, RNA-Seq for hematopoietic stem cell

  RNA-Seq data for 6 hematopoietic stem cell sample(s). 13 run(s), 6 experiment(s), 6 alignment(s). Part of BLUEPRINT release January 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811

  Dataset EGAD00001001156

• BLUEPRINT release January 2015, RNA-Seq for common lymphoid progenitor

  RNA-Seq data for 5 common lymphoid progenitor sample(s). 20 run(s), 5 experiment(s), 5 alignment(s). Part of BLUEPRINT release January 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811

  Dataset EGAD00001001184

• Understanding population genetics and patterns of genome-wide heterozygosity in a sample of the Croatian isolated populations (ESGIDalmatians)

  Using high-throughput sequencing technologies and analytical tools, we conduct an exome sequencing study that will help understand the population genetics of a Croatian island isolate, in a sample of 200 subjects from the Adriatic island of Vis who were selected to reflect islanders with at least four known ancestors in grandparental line who are original islanders.

  Dataset EGAD00001001387

• BLUEPRINT release August 2015, Bisulfite-Seq for erythroblast, on genome GRCh38

  Bisulfite-Seq data for 2 erythroblast sample(s). 35 run(s), 2 experiment(s), 2 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_bisulphite_analysis_CNAG_20150820

  Dataset EGAD00001001484

• BLUEPRINT release August 2015, Bisulfite-Seq for Acute Myeloid Leukemia - CTR, on genome GRCh38

  Bisulfite-Seq data for 1 Acute Myeloid Leukemia - CTR sample(s). 18 run(s), 1 experiment(s), 1 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_bisulphite_analysis_CNAG_20150820

  Dataset EGAD00001001530

• APCDR AGV Project: Low coverage (4x-8x) sequence data from 3 African populations (VCFs)

  Low coverage (4x-8x) Illumina HiSeq curated sequence data from 3 African populations from the AGV project; 100 Baganda from Uganda (4x), 100 Zulu from South Africa (4x), and 120 Gumuz, Wolayta, Oromo, Somali and Amhara from Ethiopia (8x). Pre-processed, jointly called and filtered with GATK, refined with Beagle3, phased with SHAPEIT2.

  Dataset EGAD00001001663

• RNA-seq transcriptome of bronchial brush samples from COPD and control

  Human subjects (COPD patients or apparently healthy controls) where investigated by bronchoscopy and a 5 mm brush was used to sample the subsegment airways of the right lung. The material obtained mainly consist of bronchial epithelial cells plus some contamination with leukocytes. For further details see Ziegler-Heitbrock et al, European Respiratory Journal, 40:823-829, 2012.

  Dataset EGAD00001002003

• The Chinese University of Hong Kong Hereditary Spastic Paraplegia Data

  The dataset contains the whole genome sequencing data of a family with two unaffected parents and two probands that showed Hereditary spastic paraplegias symptoms. Sequencing reads were aligned to human genome (GRCh38) using BWA-MEM, followed by indel-realignment and PCR-duplicates marking. Alignment results are available for download in BAM format.

  Dataset EGAD00001002146

• RNA expression profiling of melanoma patient-derived xenograft

  Patient-derived xenografts (n=96) were derived from metastatic melanoma patients. RNA expression profiling will be preformed to study 1. HLA-typing and 2. the effect of the tumour microenvironment on tumour growth This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/

  Dataset EGAD00001002230

• BLUEPRINT release August 2016, Bisulfite-Seq for Acute Lymphocytic Leukemia, on genome GRCh38

  Bisulfite-Seq data for 7 Acute Lymphocytic Leukemia sample(s). 132 run(s), 9 experiment(s), 14 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_bisulphite_analysis_CNAG_20160816

  Dataset EGAD00001002313

• BLUEPRINT release August 2016, Bisulfite-Seq for Chronic Lymphocytic Leukemia, on genome GRCh38

  Bisulfite-Seq data for 6 Chronic Lymphocytic Leukemia sample(s). 84 run(s), 6 experiment(s), 12 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_bisulphite_analysis_CNAG_20160816

  Dataset EGAD00001002396

• BLUEPRINT release August 2016, Bisulfite-Seq for Multiple Myeloma, on genome GRCh38

  Bisulfite-Seq data for 5 Multiple Myeloma sample(s). 63 run(s), 7 experiment(s), 10 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_bisulphite_analysis_CNAG_20160816

  Dataset EGAD00001002521

• Genome and transcriptome sequence data from an adenocarcinoma of unknown primary cancer patient

  Genome and transcriptome sequence data from an adenocarcinoma of unknown primary cancer patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001002606

• Genome and transcriptome sequence data from a metastatic gastric cancer patient

  Genome and transcriptome sequence data from a metastatic gastric cancer patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001004904

• Genotype data

  This dataset contains the imputed genotypes for 197 individuals. All individuals were genotyped with the Illumina HumanCoreExome-24 array. The individuals were phased with SHAPEIT and imputed to the 1000 Genomes Project Phase III using IMPUTE2. This dataset was generated as part of the following study: Panousis et al (2019). Combined genetic and transcriptome analysis of patients with SLE: Distinct, targetable signatures for susceptibility and severity

  Dataset EGAD00001005038

• NIHR BioResource Rare Diseases WGS project - Ehler-Danlos (ED) and ED-like Syndromes (EDS) Rare Disease domain

  Short read whole genome sequencing (WGS) CRAM files for the NIHR BioResource Rare Diseases WGS project – Participants from the Ehler-Danlos (ED) and ED-like Syndromes (EDS) Rare Disease domain.

  Dataset EGAD00001005123

• Cell type-specific transcriptomics of esophageal adenocarcinoma

  3' mRNA-Seq obtained from distinct isolated cell types (epithelia cells,immune cells, fibroblasts) of endoscopically obtained esophageal adenocarcinoma tissue as well as normal esophageal mucosa. Libraries for RNA-sequencing were prepared using the QuantSeq 3' mRNA-Seq Library Prep Kit FWD for Illumina according to the low input protocol. Libraries were sequenced on a HiSeq 4000 (Illumina) by 1x 50 bases.

  Dataset EGAD00001005508

• Genome and transcriptome sequence data from a metastatic pancreatic neuroendocrine patient

  Genome and transcriptome sequence data from a metastatic pancreatic neuroendocrine patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001005763

• Ovarian cancer sample size analysis

  The dataset contains exome sequencing fastq from 5 ovarian cancer patients, paired with tumor normal blood samples. Three tumor samples were sequenced from each patient: a biopsy sample ("-1" suffix in the file name), a local sample (multiple regions around the biopsy pooled together, with the "-2" suffix in the file name), and a global sample (multiple regions from the tumor pooled together, with a "-3" suffix in the file name).

  Dataset EGAD00001005947

• Whole Genome Sequencing of Human Organoid Lines (2020-02-20)

  The study will use WGS 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 is any clonal differences introduced when culturing these lines in different conditions. . This dataset contains all the data available for this study on 2020-02-20.

  Dataset EGAD00001005995

• Next Generation Sequencing Characterization of Tregs in Human Peripheral Blood during Autoimmunity

  Tregs were sorted as CD4+CD25+CD127- cells from peripheral blood of 14 healthy individuals, 8 patients with systemic lupus erythematosus, 9 patients with rheumatoid arthritis, and 11 patients with multiple sclerosis. RNA was extracted and polyA libraries were prepared using the Illumina Truseq sample preparation kit v.2. Single-end sequencing was performed on NextSeq500.

  Dataset EGAD00001006193

• Somatic mutations reveal embryonic genetic bottlenecks generating placental mosaicism

  The human placenta harbours chromosomal aberrations that are absent from the fetus in one to two percent of pregnancies. This confined mosaicism suggests that embryonic genetic bottlenecks exist, which phylogenetically segregate placental tissue. Here, we studied the somatic genetic landscape of human placentas by whole genome sequencing of 86 placental biopsies and of 106 microdissections.

  Dataset EGAD00001006337

• Whole Exome Sequencing of High grade T1 non-muscle invasive bladder cancer

  The dataset consists of a multisample VCF (version 4.1) and the corresponding annotated MAF file, containing the somatic point mutations found from exome sequencing across the high-grade T1 bladder cancer cohort (HGT1, n=61 samples). The VCF file is in accordance with the HTS format specifications (https://samtools.github.io/hts-specs/). The dataset comprises also a CSV file with clinical data.

  Dataset EGAD00001006346

• scRNA-seq raw data

  This dataset contains scRNA-seq fastq files (trimmed for quality and adapters using Trim Galore) for 3739 intestinal plasma cells of known or unknown antigen specificities from in total 12 individuals (4 untreated coeliac disease patients, 3 treated coeliac disease patients, 5 controls). The data was generated using the Smart-seq2 protocol and sequenced on the Illumina NextSeq500 platform with 75 bp paired-end reads.

  Dataset EGAD00001006436

• PCCRC versus prevalent CRC

  To analyse genome wide DNA copy number changes in combination with mutation status of CRC-related genes, CIMP and MSI, in order to explore the biology of PCCRCs. Formalin-fixed, paraffin-embedded samples from 122 PCCRCs and 98 prevalent CRCs collected in 3 different hospitals in the region of South Limburg, the Netherlands, were used in this study. DNA was extracted for molecular analysis. Labels have been updated.

  Dataset EGAD00001006987

• The evolution of hematopoietic cells under cancer therapy

  WGS TAML samples with their remission controls obtained from bone marrow.

  Dataset EGAD00001007706

• Genome and transcriptome sequence data from a metastatic carcinoma of the lung patient

  Genome and transcriptome sequence data from a metastatic carcinoma of the lung patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001002983

• Single-cell DNA sequencing dataset of aplastic anemia and RCC (31 samples)

  This dataset contains raw single-cell DNA sequencing data generated from 31 patients with aplastic anemia using the Mission Bio Tapestri platform. Libraries were prepared with a targeted DNA amplicon panel and sequenced on an Illumina platform. These raw data capture single-cell variant profiles and clonal architecture and serve as the basis for downstream analysis of somatic mutations and clonal hematopoiesis.

  Dataset EGAD50000002189

• FEGA and European GDI: working together to improve human health

  The Federated EGA is a global resource for discovery of and access to sensitive human omics and associated data consented for secondary use, through a network of human data repositories to accelerate biomedical research and improve human health. The Federated EGA network was launched in September 2022 with five inaugural nodes, and since 2023 seven operational nodes can share data across national borders in adherence to European and national laws. A few weeks after FEGA's official launch, in November 2022, the European Genomic Data Infrastructure (GDI) project was kicked-off . This European Commission co-funded project, coordinated by ELIXIR, is aimed to deliver federated, sustainable and secure data infrastructure to access genomic and related phenotypic and clinical data across Europe. This project supports the aim of the 1+MG initiative (25 EU countries, Norway and UK) to enable personalised medicine and health through a shared framework and infrastructure for securely accessing and integrating high quality genomic data and other health data across borders.1+MG will be an integral component of the European Health Data Space (EHDS) for secondary use (Healthdata@EU) as an authorised participant. How are Federated EGA and GDI similar? Given their shared visions, the Federated EGA and European GDI networks have a lot in common. To begin, they share the same overall goal of establishing networks of “nodes” that host sensitive human data within a jurisdiction and connecting these nodes in a global network to support data discovery and promote human genome data access for research and healthcare. FEGA and GDI are both initially focused on enabling access to human genomic data, while FEGA ambition is to expand the scope to clinical research data and other omics data in the future. FEGA and GDI are both built on open and interoperable software solutions, a subset of which are based on the LocalEGA components. FEGA and GDI implementation solutions are based on international community standards, for example those developed by the Global Alliance for Genomics and Health, which contributes to making them interoperable. Both FEGA and GDI allow for the nodes to make use of any solution that is fully compatible. As illustrated in Figure 1, a final key point is the significant overlap of institutions involved in envisioning and operating FEGA and GDI nodes, with the clear wish to keep them interoperable in the future. What distinguishes Federated EGA from GDI? Despite being largely similar, there are some differences between the FEGA and GDI networks, which we aim to clarify in this post. The first difference is the governance model that the nodes will operate to comply with national laws and GDPR. In the FEGA network, nodes have taken inspiration from the EGA data access model, where the infrastructure is a data processor of the hosted data and data controllership remains with the originating Data Access Committees (i.e. Data controllers) for each dataset. On the other hand, in the GDI network the controllership of datasets will be transferred to a 1+MG European Digital Infrastructure Consortium (EDIC) legal entity created by the Member States (MS), who will make data access decisions, with data holders having veto powers for their datasets. Importantly, FEGA nodes have the flexibility to choose another model to fit with their data protection framework, including becoming data controllers for their datasets. The second difference is the inclusion criteria for data. While FEGA nodes are designed to accept almost any type of omics data in need of control access (e.g. genomics, transcriptomics, genotyping, single cells sequencing, patient-tracked metagenomics), GDI nodes are initially, but not only, focused on accepting whole genome and exome sequencing data and affiliated data from sources such as (i) the Genome of Europe use case of the 1+MG initiative which specifically aims to fulfil the mission of building “a European network of national genomic reference cohorts of at least 500,000 citizens”) (ii) data collection of other types of genomic data identified by countries through the 1+MG dashboard and (iii) genomic data coming from data holders which would need to fulfil EHDS requirements. The third difference is the maturity of the software stacks. The FEGA network provides a set of software for data and metadata submission, storage, permissions management, and file distribution (the LocalEGA package). GDI is building a complete set of open source reference for the five functionalities covering the full data life cycle (a few more compared to the LocalEGA) including federated processing (analytics, AI/ML), which is still under active development. Notably, one of the GDI functionalities - storage and interfaces - can be satisfied by using the LocalEGA storage solution, highlighting the ability of FEGA and GDI to be interoperable. In both FEGA and GDI, nodes are allowed to use alternative solutions as long as they are fully interoperable with the networks. Figure 1 provides a simple overview of these described commonalities and differences. Figure1: schematic overview of the main commonalities and difference among a FEGA and a GDI node Can the same institute run a FEGA and a GDI node at the same time? The answer is Yes! We believe this is entirely possible and encouraged. As long as 1+MG requirements are continuously fulfilled in the implementation. The same trained personnel could operate the infrastructure and leverage the same national funding to run a FEGA and a GDI node. Several European nodes, especially GDI vanguard nodes like Norway, Sweden, Finland and Spain are following this model. The idea is that a lot of the work can be reused, given the overlapping scope and the interoperable technology. Thus, the hosted datasets can be discovered via the two catalogues, perhaps accessible under the same or different governance models. From a FEGA node perspective, the GDI datasets could simply be a subset of the datasets hosted in the FEGA node, which have their specific governance as any other. What's next? So, the amazing teams of people building the Federated EGA network and the European GDI network are working together to create infrastructures able to provide secure access to human genomic and associated data around Europe. Because we all know how much human genomics can improve healthcare and precision medicine. And we all want to collaborate to make it happen. This article has been reviewed collectively by members of the EGA and the GDI coordination team.

  Blog fega-and-gdi

• WTCCC case-control study for Coronary Artery Disease - Combined Controls

  WTCCC genome-wide case-control association study for Coronary Artery Disease (CAD) using six disease collections together with the 1958 British Birth Cohort and the UK National Blood Service collections as controls.

  Study EGAS00000000004

• WTCCC case-control study for Type 1 Diabetes - Combined Controls

  WTCCC genome-wide case-control association study for Type 1 Diabetes (T1D) using six disease collections together with the 1958 British Birth Cohort and the UK National Blood Service collections as controls.

  Study EGAS00000000015

• WTCCC case-control study for Coronary Artery Disease, Hypertension, T2D - combined cases

  WTCCC genome-wide case-control association study using the cardiovascular disease CAD, HT and T2D as combined case collection and the 1958 British Birth Cohort and the UK National Blood Service collections as controls.

  Study EGAS00000000005

• WGS_skin_punches

  We wish to understand the degree of copy number alterations in normal human sun exposed skin. We have collected small punches of epithelia and using a bait set design have shown the these span a clone. WGS will provide copy number information on these.

  Study EGAS00001004465

• WTCCC case-control study for Type 2 Diabetes - Combined Controls

  WTCCC genome-wide case-control association study for Type 2 Diabetes (T2D) using six disease collections together with the 1958 British Birth Cohort and the UK National Blood Service collections as controls.

  Study EGAS00000000017

• A new beta-globin mutation responsible of a beta-thalassemia (HbVar database ID 2928) was observed in 8 unrelated French families. The mutation carriers originated from Nord-Pas-de-Calais, a Northern French region where the chief town is Lille.5 unrelated mutation carriers were genotyped for a set of 12 microsatellites from chromosome 11, around the beta-globin gene. Among the 5 mutation carriers, 4 were genotyped for 97 European Ancestry Informative SNPs (EAIMs). 32 controls from Nord-Pas-de-Calais were genotyped for the microsatellites and SNPs.

  Dac EGAC00001000245

• Cancer Genome Project Exome Sequencing

  Agilent whole exome hybridisation capture was performed on genomic DNA derived from cancer and matched normal DNA from the same patients. Next Generation sequencing performed on the resulting exome libraries and mapped to build 37 of the human reference genome to facilitate the identification of novel cancer genes. Now we aim to re find and validate the findings of those exome libraries using bespoke pulldown methods and sequencing the products.

  Dataset EGAD00001000289

• SC_DDD-G-3

  Unfiltered genotype data for DDD Study trios (patient and parents) (N=2,166 samples), some of which were used for replication of neurodevelopmental disorder polygenic risk (Niemi et al., Nature 2018). Samples were genotyped on the Illumina HumanOmniExpress BeadChip

  Dataset EGAD00010001602

• ChIP-sequencing fragment coverage

  Raw sequencing reads from H3K27ac ChIP and input DNA from lymphoblastoid cells of three TET2 mutation carriers and two wild-type family members were quality and adapter trimmed with cutadapt version 1.16 in Trim Galore version 0.3.7 using default parameters. Trimmed reads were aligned to hs37d5 reference genome using Bowtie2 (version 2.1.0). Duplicate reads were removed with samtools rmdup (v1.7). Fragment coverage of paired-end reads was calculated from bam files with BEDtools genomecov (v2.26.0).

  Dataset EGAD00010001671

• HIPO016 - glioblastoma tumour methylation microarray profiling

  Methylation microarray profiling (Illumina Human Methylation 450k and EPIC platforms) of 60 adult glioblastomas. Tumours were subtyped using the approach from Sturm et al. (https://doi.org/10.1016/j.ccr.2012.08.024): 12 IDH, 18 MES, 12 RTK I, 18 RTK II. DNA was prepared, assayed on the microarrays, and raw data computationally processed as described in Capper et al., "DNA methylation-based classification of central nervous system tumours": https://www.nature.com/articles/nature26000

  Dataset EGAD00010001797

• Breast Cancer Histology Images

  Fresh frozen breast cancer H&E tissue images collected and annotated by the International Cancer Genome Consortium (ICGC), that included the BASIS collaboration. Associated with whole genome sequence data as originally described by Nik-Zainal et al, Nature, 2016 (DOI: 10.1038/nature17676) and deposited with ID EGAS00001001178

  Dataset EGAD00010001911

• InterPregGen-GWAS-UZB-1

  GWAS genotype data for maternal and fetal (baby) cases of preeclampsia and controls from Uzbekistan. This dataset is a component of the InterPregGen FP7 project. DNA samples for this component were collected by InterPregGen Consortium members in Tashkent, Uzbekistan at the Institute of Immunology, Uzbek Academy of Sciences and at the Republic Specialized Scientific Practical Medical Centre of Obstetrics and Gynecology

  Dataset EGAD00010001918

• Epigenome-wide association study of asthma remission in whole blood and nasal epithelium

  Clinical remission (ClinR) was defined as the absence of asthma symptoms and medication for at least 12 months, and complete remission (ComR) was defined as ClinR with normal lung function and absence of airway hyperresponsiveness. We analyzed differential DNA methylation of ClinR and ComR comparing to persistent asthma (PersA) in whole blood samples (n=72) and nasal brushing samples (n=97) in a longitudinal cohort of well characterized asthma patients.

  Dataset EGAD00010002026

• FFPE cohort with RNA-seq data of tumor samples

  This dataset contains RNA-seq raw data in fastq format from 14 tumor samples. The samples are from primary tumors or metastasis and represent various cancer entities. The samples are formalin-fixed paraffin-embedded (FFPE) treated. For target enrichment SureSelect XT Human All Exon V6 was used. The libraries were sequenced in paired-end mode (2 x 50 nt) on a NovaSeq6000 S2 flow cell.

  Dataset EGAD00001006781

• imputed_bacterial_meningitis

  This study includes 1146 samples of host genotyping data (imputed) from Illumina Omni arrays, using https://imputation.sanger.ac.uk/ with the Haplotype Reference Consortium v1.1. Samples were collected from adults (>16 yrs) patients with CSF confirmed bacterial meningitis in the Netherlands between 2006 and 2015. Metadata includes patient outcome, species of bacteria, and for 467 samples a link to an ENA run with the associated bacterial genome (S. pneumoniae only).

  Dataset EGAD00010002327

• Epigenome-wide association study of cocaine use disorder in postmortem human brain tissue

  Analysis of cocaine use disorder (CUD) associated epigenome-wide DNA methylation (DNAm) alterations in human postmortem brain tissue of Brodmann Area 9. Tissue samples from N=21 CUD cases and N=21 individuals without CUD originating from the Douglas Bell Canada Brain Bank (DBCBB) were included. Epigenome-wide DNAm was investigated using the Illumina Infinium MethylationEPIC array.

  Dataset EGAD00010002396

• Quantitative analysis of a novel DNA hypermethylation panel using bronchial specimen for lung cancer diagnosis

  The dataset includes IDAT raw files for 10 samples and the analyzed DMP file which describes the differential methylation positions based on Illumina Infinium MethylationEPIC BeadChip. All samples (5 lung cancer cases vs. 5 benign lung disease controls) were obtained from bronchial washings at the site of the lesion under bronchoscopy manipulation. The histological type of the five lung cancer cases is adenocarcinoma and squamous cell carcinoma.

  Dataset EGAD00010002465

• 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

• SNP array

  The whole study comprises of two patient cohorts. Screening cohort: 40 patients of Germany; validation cohort: 40 patients from Asia. Further, bile duct and CCA cell lines have been analyzed.
This dataset contains SNP array data for tumor/normal pairs for a subset of 36 patients from the screening cohort plus an additional relapse tumor of one of those 36 patients. Data was generated on a OmniExpress-24 v1.1 Bead Array (Illumina) and is stored in IDAT file format.

  Dataset EGAD00010002597

• Evaluating potential drug candidates for the treament of Henamgiopericytoma on patient derived cell line models

  Solitary fibrous tumor/Hemangiopericytoma (SFT/HPC) is a rare subtype of soft tissue sarcoma associated with NAB2-STAT6 gene fusions. This study established and characterized a novel SFT/HPC patient-derived cell line called SFT-S1. Potential drug candidates that could be repurposed for the treatment of SFT/HPC were screened. Screening was performed through RNA-Seq

  Dataset EGAD50000000039

• The chemotherapeutic CX-5461 is extremely mutagenic and may increase cancer risk

  Deposited here are whole-genome sequencing bam or fastq files from the experimental isogenic cell lines used in the study "The chemotherapeutic CX-5461 is extremely mutagenic and may increase cancer risk, Koh, Gene (2023)". The bam files were aligned to GRCh38/hg38 using BWA-MEM. The corresponding variant call data have been deposited on Mendeley Data, V2, doi: 10.17632/d58cv549v6.2

  Dataset EGAD50000000036

• Idiopathic Collapsing Glomerulopathy in Brazilian patients

  Collapsing glomerulopathy is a severe kidney disease that often leads to chronic dialysis or kidney transplantation. To expand its understanding, we performed a broad clinical and genetic analysis of a highly admixed patient population with idiopathic collapsing glomerulopathy.

  Study EGAS50000000064

• WES data from tumors and matching controls collected from 11 UTSW translocation renal cell carcinoma (tRCC) patients.

  This study investigates translocation renal cell carcinoma (tRCC) to identify mutations contributing to tRCC progression. The analysis relies on Whole Exome Sequencing (WES) data obtained from 11 patients treated at University of Texas Southwestern Medical Center (UTSW) affiliated hospitals, including Parkland Hospital and Children’s Medical Center. Tumor samples and their corresponding normal DNA were sequenced using the Illumina platform.

  Dataset EGAD50000000171

• Single-cell transcriptomic analyses of peripheral blood mononuclear cells from patients with colorectal cancer metastasized to the peritoneum

  The data published here contains single-cell RNA-sequencing (scRNAseq) data as obtained using the 3' scRNAseq using Chromium Single Cell 3’ Reagent from 10X Genomics on peripheral blood mononuclear cells (PBMC) from patients with colorectal cancer (CRC) and peritoneal metastases (PM). Sequencing was performed in a paired-ended fashion on the NovaSeq6000.

  Dataset EGAD50000000247

• Dataset for Fragle Software Development and Evaluation

  Fragle is a deep learning based two stage model that quantifies ctDNA from blood plasma derived cfDNA bam files. Fragle was developed using some previously published datasets and some newly generated data. Fragle was evaluated using some validation cohorts and some unseen cohorts. Some of these cohorts are newly created consisting of total 365 low pass (2-3X) whole genome sequencing bam files mapped to hg19/GRCh37. This dataset contains these newly generated bam files.

  Dataset EGAD50000000167

• nanoCUSA

  This study aims to provide raw nanopoore sequencing data from tumor samples obtained during neurosurgery using a Cavitating Ultrasonic Aspirator. Acquired data with a subsequent neural network classifier with nanopore-specific diagnostic score thresholds assures high specificity while achieving acceptable sensitivity.

  Study EGAS50000000187

• iPSC and iPSC derived pericytes

  Bulk RNA sequencing of iPSCs and iPSC derived pericytes from three cell lines MNZTASi019-A, MNZTASi021-A and MNZTASi022-A. Data includes one iPSC data set per cell line and iPSC derived pericyte differentiations per cell line (3 differentiations from MNZTASi019-A and MNZTASi021-A, 2 from MNZTASi022-A). RNA-seq data was generated using an Illumina Stranded mRNA 150bp paired-end library preparation.

  Dataset EGAD50000000255

• Bulk RNAseq of cultured fibroblasts

  Fastq files from bulk RNAseq of fibroblasts after culture and facs sorting (N=9). Sorted FAP+ CAF cells RNAs were extracted using Qiagen miRNeasy Kit (Qiagen, #217004) according to the manufacturer's instructions. Verification of RNA integrity and quality was performed using the Agilent RNA 6000 nano Kit (Agilent Technologies, #5067-1511). cDNA libraries were prepared using the TruSeq Stranded mRNA Kit (Illumina, #20020594) followed by sequencing on NovaSeq (Illumina).

  Dataset EGAD50000000323

• CITE-seq AdaptNK

  CITEseq was performed as outlined in Biolegend ‘TotalSeqTM-A Antibodies and Cell Hashing with 10x Single Cell 3' Reagent Kit v3 3.1 Protocol’ with minor modifications, using Biolegend oligo-conjugated antibodies and streptavidin TotalSeq reagents. Briefly, ADAPT-NK cells were stained with CD56-biotin mAb (Miltenyi, clone REA196), followed by TotalSeq antibodies and streptavidin-PE and Live/Dead Aqua (Invitrogen). Cells were subsequently sorted for viable CD56+ cells by flow cytometry.

  Dataset EGAD50000000329

• Endoresist panel sequencing

  Patients with endocrine-resistant breast cancer in Stockholm Sweden. DNA obtained from patients primary and relapse tumors, and tumor-free lymph nodes used as germline control. DNA was extracted from formalin-fixed paraffin-embedded tissue and sequenced by 370-gene panel-based sequencing with Kapa HyperPlus library preparation and Twist Bioscience hybrid capture. Custom bait sets (panels) from Twist Bioscience. Paired end 2x150 bp using NovaSeq X. The data is presented as fastq-files.

  Dataset EGAD50000000350

• RNA-seq dataset

  RNA-seq data from CD20+ sorted cells obtained from peripheral blood and lymph node Follicular Lymphoma patients. These samples were unstimulated after thawing and additionally, peripheral blood samples were stimulated during 7 days in culture as described in Dobaño-López C et al. Stranded RNA-seq libraries were performed using the TruSeq library kit (Illumina, San Diego, CA, USA). Libraries were sequenced on a NextSeq 2000 (Illumina) in a 2x50bp length.

  Dataset EGAD50000000347

• Cityscape Serum peptide Mass Spec data

  Matrix of counts from the serum peptide mass spec data from patients enrolled in the CITYSCAPE trial, and the sample annotation. Specifically, serum samples at C1D1, C2D1, C3D1, SCRN were collected from a total of 132 patients and subject to Mass Spec at Biognosys. The current study focused on patients who have samples at both C1D1 and C2D1 (n = 64 pairs). Associated metadata also included.

  Dataset EGAD50000000369

• PBMC scRNA-seq data using 10X Genomics platform

  Matrices of counts from single-cell RNA-seq data and single-cell CITE-seq data collected from 16 patients enrolled in GO30103 trial, and the cell level annotation. Specifically, PBMCs at C1D1, C1D15 (2 weeks after treatment), C2D1 (3 weeks after treatment) and C4D1 (9 weeks after treatment) were collected and subject to 10x Genomics protocol. Associated metadata also included.

  Dataset EGAD50000000370

• INTEGRATIVE MOLECULAR ANALYSIS OF SKIN TUMORS FROM CYLD CUTANEOUS SYNDROME PATIENTS

  CYLD cutaneous syndrome (CCS) is a rare autosomal dominant disorder characterized by germline CYLD mutations and by multiple benign skin tumors dependent on NF-kB pathway. We assembled a large cohort of CCS rare skin tumors that was profiled with whole exome or genome sequencing, RNA sequencing and methylation arrays to better understand genetic mechanisms of CCS tumorogenesis.

  Dataset EGAD50000000362

• RNAseq of preneoplasia lung adenocarcinoma

  RNA sequencing of 168 pulmonary samples including lung preneoplasia atypical adenomatous hyperplasia (AAH, N=38), adenocarcinoma in situ (AIS, N=22), minimally invasive adenocarcinoma (MIA, N=19) and invasive lung adenocarcinoma (ADC, N=38) and adjacent lung tissues (Normal, N=62).

  Study EGAS50000000271

• Whole exome sequencing of FFPE material from 41 pediatric BCP-LBL patients.

  This study contain the results of whole exome sequencing analyses of FFPE material from 41 pediatric B-cell precursor lymphoblastic lymphoma patients. Samples were sequenced with a target coverage of 200x. Data are provided as Fastq files.

  Study EGAS50000000290

• RNA sequencing of BCP-LBL patients samples

  In order to perform comprehensive transcriptomics and gene fusion analyses of a cohort of BCP-LBL patients, we performed RNA sequencing of 49 tissue samples from BCP-LBL patients. Because the material was available as FFPE, and had a relative low quality, we used a capture-based approach, where NGS libraries obtained from total RNA were captured in 4-plex, using a whole exome capture panel.

  Dataset EGAD50000000419

• WGS data of patient derived organoids (PDO) generated from dMMR colorectal tumor subclones

  The dataset includes bam files from WGS of 26 monoclonal patient derived organoid (PDO) lines isolated from 6 independent tumor subclones of a dMMR colorectal tumor. These organoids were grown as part of an in vitro timecourse experiment for the duration of 9 weeks; bam files represent the mutational load at the start of the timecourse (t0) and the end of the timecourse (t1).

  Dataset EGAD50000000427

• Variant calling from CC220-MM-001 cohorts A,B,D

  These are genomic and transcriptomic high risk molecular segments for 167 samples collected at baseline from deidentified patients enrolled in cohorts A,B or D in the CC-220-MM-001 clinical study. Data are provided in a patient call table in csv format. Calls are generated from WGS data with mutations called by mutect2 best practices pipeline, CNV calls from Battenberg; and RNA-seq aligned with star aligner and quantified by Salmon.

  Dataset EGAD50000000388

• scRNAseq and scTCRseq of three tumor lesions derived from one patient receiving adoptive TIL therapy

  scRNA sequencing and scTCR sequencing on three tumor lesions derived from one patient receiving adoptive tumor-infiltrating lymphocyte (TIL) therapy. Expanded metastasis was used for TIL expansion and yielded the TIL product which also was used for scTCR sequencing. 10 weeks after transfer of the TIL product the regressing metastasis was resected. After the patient progressed the progressing metastasis was removed (61 weeks).

  Dataset EGAD50000000406

• paired-end FASTQ files from the study: Identification of the cause of juvenile parkinsonism in a case_SYNJ1

  The dataset consists of three samples: two controls and one case of juvenile Parkinsonism. Whole Exome Sequencing (WXS) was performed on these samples using hybrid selection for library preparation. Sequencing was carried out on the Illumina NextSeq 500 platform. For each sample, two FASTQ files containing paired-end reads (R1 and R2) were generated. The data deposited consists of the corresponding FASTQ files.

  Dataset EGAD50000000413

• BCR sequences and metadata for cultured single B-cell clones from blood

  The dataset contains VDJ sequences in FASTA format, the same sequences run through IMGT/HighV-QUEST (tsv file) and accompanying metadata (csv file) including antigen specificity (transglutaminase 2-specific or other). The data was generated from cultured single B-cell clones from the peripheral blood of four untreated celiac disease patients. Sequences were obtained by a nested RT-PCR approach targeting the immunoglobulin chains followed by Sanger sequencing.

  Dataset EGAD50000000343

• Whole genome sequencing of mature B-cell lymphomas to identify MYC, BCL2, and BCL6 rearrangements

  Whole genome sequencing (WGS) data of 12 tumours was generated on an Illumina NovaSeq or HiSeqX instrument. For frozen samples, libraries were constructed using a PCR-free library construction method. For tumours preserved by formalin fixation and paraffin embedding (FFPE), libraries were constructed with a method that included S1 nuclease treatment. Reads were aligned to the grch37 reference with bwa-mem 0.7.17.

  Dataset EGAD50000000474

• Low-coverage whole-sequencing of metastasised colorectal cancer samples treated with bevazicumab

  Low-coverage whole-genome sequencing (LC-WGS) was performed on tumor tissue, normal tissue and plasma samples collected from mCRC patients from the AC-ANGIOPREDICT Phase II trial (NCT01822444) and the University Medical Center Mannheim (UMM).

  Study EGAS50000000131

• EOSC4Cancer Synthetic Colorectal Cancer Genomic data

  In this study there are stored the synthetic datasets produced by partners involved in EOSC4Cancer. The study contains independent datasets available for the research community. The synthetic genomes have been created trying to mimic real cancer data.

  Study EGAS50000000190

• Whole Exome Sequencing Bipolar cases matched controls performed at Broad Inst on cohort from Germany

  This research project was a collaboration between University Hospital Frankfurt and the Stanley Center at the Broad Institute. In this project we sequenced and analyzed the whole exomes of 823 Bipolar case/control samples from collaborators in Germany. Genomic DNA from each sample was sequenced to a mean depth of 20x. The exome used Twist capture and samples were sequenced on Illumina HiSeqX machines producing cram files.

  Dataset EGAD50000000563

• Profiling of gene expression and epigenomics in the fetal brain

  scRNA-seq and Cut&Tag from a sample of the human fetal brain. To compare neurogenesis in the primary human brain with that in organoids, we profiled transcriptome and chromatin accessibility (10X multiome) as well as bulk Cut&Tag of histone modifications H3K27me3, H3K27ac and H3K4me3. We used a human brain sample from GW 19 for all experiments.

  Dataset EGAD50000000225

• Whole Exome Sequencing of Bipolar cases, matched controls at Broad Inst on a cohort from Netherlands

  This research project was a collaboration between VU and the Stanley Center at the Broad Institute. In this project we sequenced and analyzed the whole exomes of 943 Bipolar case/control samples from collaborators in the Netherlands. Genomic DNA from each sample was sequenced to a mean depth of 20x. The exome used Twist capture and the samples were sequenced on Illumina HiSeqX machines producing cram files

  Dataset EGAD50000000619

• Healthy control cfMeDIP-seq

  This dataset comprises 46 raw fastq files derived from 23 plasma cfDNA samples from 23 healthy (CTL) cancer-free donors. For each sample, 10ng of cfDNA was used for library preparation utilizing the cfMeDIP-seq technology based on the 5mC antibody-immunoprecipitation strategy. Libraries were validated via Bioanalyzer trace analysis and sequenced on the Illumina NovaSeq 6000 platform with paired-end 150-bp model for ~100 million reads per sample.

  Dataset EGAD50000000652

• DAC for "Longitudinal copy number variation analysis from plasma DNA of head and neck cancer patients under re-radiotherapy"

  This is the DAC for "Longitudinal copy number variation analysis from plasma DNA of head and neck cancer patients under re-radiotherapy" with Florian Janke f.janke@dkfz-heidelberg.de German Cancer Research Center, Division of Cancer Genome Research Holger Sültmann h.sueltmann@dkfz-heidelberg.de German Cancer Research Center, Division of Cancer Genome Research Magdalena Görtz magdalena.goertz@dkfz-heidelberg.de German Cancer Research Center, Multiparametric Methods for Early Detection of Prostate Cancer

  Dac EGAC50000000114

• Clinical panel sequencing of cancer of unknown primary using Comprehensive cancer panel (CCP)

  This database includes comprehensive cancer panel (CCP) on paired tumour and germline DNA from cancer of unknown primary samples, all of which are matched to WGS data under this study. This data was used to compare biomarker yield against what was achieved with WGS. This dataset contains n=34 tumour-germline paired samples. All samples are in BAM format aligned with GRCh38 reference genome.

  Dataset EGAD50000000655

• Clinical panel sequencing of cancer of unknown primary using TruSight Oncology 500 (TSO500)

  TruSight Oncology 500 (TSO500) cancer panel sequencing data on paired tumour and germline DNA from cancer of unknown primary samples. All of the samples in this dataset are matched to WGS data. This data was used to compare biomarker yield against what was achieved with WGS and contains n=51 tumour-only samples. All samples are in BAM format aligned with GRCh38 reference genome.

  Dataset EGAD50000000657

• RNAseq profiles from the CheckMate-142 clinical trial

  The dataset contains RNAseq profiles of 57 patients from the CheckMate-142 clinical trial. The Allprep DNA/RNA FFPE kit was used to simultaneously purify genomic DNA and RNA from formalin-fixed, paraffin embedded (FFPE) tissue sections. Baseline tumor tissue samples were processed using the Illumina TruSeq RNA Access in-solution hybrid capture panel and underwent subsequent NGS on the Illumina NovaSeq platform. Fastq files are included.

  Dataset EGAD50000000609

• WES and RNAseq dataset

  This dataset includes WES and RNAseq for 7 patients with metastatic melanoma (4), non-small cell lung adenocarcnioma (1), cervix adenocarcinoma (1), and Epidermoid nasophaeyngeal carcinoma (1), enrolled in phase I clinical trials (NCT03475134m NCT04643574 and NCT05195619). WES was performed on matched cancer and healthy tissues, whereas RNAseq was performed on cancer tissues, using Illumina HiSeq 4000/6000 and Illumina NextSeq 500/550 systems.

  Dataset EGAD50000000337

• Non-KMT2Ar infant Acute Lymphoblastic Leukemia Sequencing

  Integrated genomic analysis of non-KMT2A rearranged infant ALL reveals clinically relevant alterations and common disease origins with childhood ALL. Whole genome and whole transcriptome sequencing from 21 infant ALL patients with no matched normal DNA sequencing.

  Study EGAS50000000405

• Whole Exome Sequencing of Bipolar cases, matched controls at Broad Inst on cohort from Cambridge, UK

  This research project was a collaboration between Cambridge University, UK and the Stanley Center at the Broad Institute. In this project we sequenced and analyzed the whole exomes of 2,873 Bipolar case/control samples from collaborators in UK. Genomic DNA from each sample was sequenced to a mean depth of 20x. The exome used Twist capture and samples were sequenced on Illumina HiSeqX machines producing cram files

  Dataset EGAD50000000627

• ISA Nutrition 2015

  Comprehensive data on lifestyle-related modifiable factors, sociodemographic, anthropometric, economic, biochemical, and genetic markers related to the occurrence of cardiometabolic diseases as part of the observational cross-sectional survey (2015 Health Survey of Sao Paulo with Focus on Nutrition (2015 ISA-Nutrition), a population-based study. Data of 805218 SNPs for 841 individuals was genotyped using the Axioma 2.0 Precision Medicine Research Array in the Thermo Fisher Scientific laboratory (Affymetrix Inc, Santa Clara, CA).

  Dataset EGAD00010002678

• Ischemia Reperfusion Responses in Human Lung Transplants at the Single Cell Resolution

  Ischemia reperfusion is an unavoidable step of organ transplantation. Development of therapeutics for lung injury during transplantation has proved challenging; understanding lung injury from human data at the single cell resolution is required to accelerate the development of therapeutics. Donor lung biopsies from six human lung transplant cases were collected at the end of cold preservation and 2-hour reperfusion and underwent single cell RNA sequencing.

  Dataset EGAD50000000704

• Single-cell transcriptomics of neuroblastoma tumors

  Single-cell RNA-sequencing (CITE-seq) and single-nucleus RNA-sequencing data were generated from neuroblastoma patient tumors to uncover transcriptional heterogeneity at a single-cell resolution. In addition, we used the data to validate our findings of the NBAtlas.

  Study EGAS50000000223

• Dataset for the manuscript of Scywalker: scalable end-to-end data analysis workflow for nanopore single-cell transcriptome sequencing

  Dataset for the manuscript Scywalker: scalable end-to-end data analysis workflow for nanopore single-cell transcriptome sequencing. Contains fastq files for 4 brain samples obtained from short-read NovaSeq 6000 v1.5 Illumina and long-read Oxford Nanopore PromethION sequencing. Single-cell suspensions were generated using 10x Genomics Chromium Next GEM Single Cell 3'Kit v3.1

  Dataset EGAD50000000768

• Whole Genome DNA Methylation

  Whole Genome Bisulfite Sequencing on normal primary human uveal melanocytes. WGBS libraries were prepared using the Accel-NGS Methyl-Seq DNA Library Kit (Swift Biosciences 30024), the EZ DNA Methylation-Gold Kit (Zymo D5005), and DNA Clean & Concentrator-5 (Zymo D4013), following the instruction manual Accel-NGS Methyl-Seq DNA Library (Revision 160510). Paired-end (2 x 150 bp) libraries were sequenced on a DNBSEQ-T7 instrument (MGI) after library conversion.

  Dataset EGAD50000000766

• DNA methylation changes associated with hyperglycemia in type 1 diabetes

  This dataset includes DNA methylation profiles from 112 young with Type 1 Diabetes (T1D) at T1D diagnosis, who were longitudinally monitored for hyperglycemia over an average duration of 3 years. These datasets were generated using whole-genome bisulfite sequencing. It includes 1872 fastq files (i.e. 936 paired-end fastq files) generated through 150 bp paired-end sequencing on Illumina HiSeqX.

  Dataset EGAD50000000545

• Single-cell multiome ATAC and gene expression profiling of hepatoblastoma tumor organoids

  10X Genomics single-cell multiome profiling of hepatoblastoma tumor organoids using Chromium Next GEM Single-Cell Multiome ATAC + Gene Expression Kit. Single-cell transcriptomics data (bam file) of multiplexed sample of hepatoblastoma tumor organoids: 3E, 8F1, 10F2, 13F2, 13E, 17E and 96F1. Single-cell solutions were obtained from fresh organoid samples using enzymatic digestion.

  Dataset EGAD50000000795

• Single-cell transcriptomic profiling of hepatoblastoma tumor organoids

  10X Genomics single-cell transcriptomic profiling of hepatoblastoma tumor organoids using Chromium Next GEM Single-Cell 3’ Reagent Kits v3.1 or 3’ CellPlex Multiplexing Kit. Single-cell transcriptomics data (bam files) of hepatoblastoma tumor organoids: 3E, 8F1, 10F2, 13F2, 13F2 late, 13E, 17E, 17F1, 22E, 27F1, 28F1, 31E, 96F1, 121E and 135. Single-cell solutions were obtained from fresh organoid samples using enzymatic digestion.

  Dataset EGAD50000000796

• Whole-Exome Sequencing Plasma Control Samples for Benchmarking

  This study contains whole-exome sequencing plasma and HapMap (12877, 12878) control samples for bioinfomatic bencmarking. Plasma samples contain variations in the genes KRAS, NRAS, PIK3CA, and EGFR, including insertions and deletions, at 0.0%, 0.1%, 1.0%, and 5.0%.

  Study EGAS50000000565