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• Genetic analysis in monozygotic twins discordant for bipolar disorder

  To identify genes relevant to bipolar disorder, an exome sequence analysis was conducted in 3 pairs of healthy monozygotic twins as control twins in this study. In addition to this data set, an exome sequence analysis was also conducted in several monozygotic twins discordant for bipolar disorder.

  Study JGAS000014

• Profiling of human fecal microbiota for succinate consumption

  The objective of this study was to identify the bacterial taxa responsible for succinate consumption in human gut microbiomes. We enriched fresh stool from healthy donors in growth medium with and without supplemented succinate. We then measured metabolite concentrations and bacterial composition in the stool and enrichment samples.

  Study EGAS50000000519

• RRBS of 58 pleural mesothelioma samples (Paired-end)

  The dataset contains RRBS data (bam files) for 58 pleural mesothelioma samples. The samples were sequenced on NovaSeq6000 (Illumina, San Diego, CA) in paired-end 150bp mode. RRBS raw reads were trimmed for adaptor sequences using trim galore (v. 0.6.5) (http://www.bioinformatics.babraham.ac.uk/projects/trim_galore/) and filtered for low-quality sequences using fastQC (v. 0.11.8) (https://www.bioinformatics.babraham.ac.uk/projects/fastqc/). High quality trimmed reads were mapped to the Human reference genome (UCSC genome assembly GRCh38/hg38) using Bismark (v. 0.22.3) with default parameters.

  Dataset EGAD50000002129

• RNA-seq

  Our cohort represents infants with ALL in whom KMT2Ar was not detected by FISH or by standard cytogenetics. Whole-transcriptome sequencing (WTS) libraries were prepared using the NEBNext Ultra II RNA Directional library kit for samples with at least 100ng RNA (n=19), the Clontech double stranded cDNA conversion kit plus the Nextera XT library protocol for samples with less than 100ng RNA (n=4), or ribodepletion using NEBNext rRNA Depletion Kit v2 (Human/Mouse/Rat) for Total RNA (n=1). Libraries were paired-end sequenced using the Illumina HiSeq 2500.

  Dataset EGAD50000000595

• BLUEPRINT September 2016, ChIP-Seq for conventional dendritic cell from cord blood, on Genome GRCh38

  ChIP-Seq data for 1 sample(s) for conventional dendritic cell from cord blood, on Genome GRCh38. 1 run(s), 1 experiment(s), 1 alignment(s). Part of BLUEPRINT (September 2016).Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_chipseq_analysis_ebi_20140811

  Dataset EGAD00001002948

• BLUEPRINT September 2016, ChIP-Seq for memory B cell from venous blood, on Genome GRCh38

  ChIP-Seq data for 1 sample(s) for memory B cell from venous blood, on Genome GRCh38. 1 run(s), 1 experiment(s), 1 alignment(s). Part of BLUEPRINT (September 2016).Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_chipseq_analysis_ebi_20140811

  Dataset EGAD00001002950

• BLUEPRINT September 2016, ChIP-Seq Acute Lymphocytic Leukemia for precursor B cell from venous blood, on Genome GRCh38

  ChIP-Seq data for 1 sample(s) Acute Lymphocytic Leukemia for precursor B cell from venous blood, on Genome GRCh38. 1 run(s), 1 experiment(s), 1 alignment(s). Part of BLUEPRINT (September 2016).Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_chipseq_analysis_ebi_20140811

  Dataset EGAD00001002949

• BLUEPRINT September 2016, RNA-Seq Acute Lymphocytic Leukemia for precursor B cell from venous blood, on Genome GRCh38

  RNA-Seq data for 6 sample(s) Acute Lymphocytic Leukemia for precursor B cell from venous blood, on Genome GRCh38. 6 run(s), 6 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 EGAD00001002963

• BLUEPRINT September 2016, RNA-Seq Acute Myeloid Leukemia for blast cell from bone marrow, on Genome GRCh38

  RNA-Seq data for 1 sample(s) Acute Myeloid Leukemia for blast cell 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 EGAD00001002962

• BLUEPRINT September 2016, RNA-Seq for monocyte T=10day_S100A9_RANKL_M-CSF from venous blood, on Genome GRCh38

  RNA-Seq data for 1 sample(s) for monocyte T=10day_S100A9_RANKL_M-CSF 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 EGAD00001002961

• BLUEPRINT September 2016, RNA-Seq for monocyte T=6day_S100A9_RANKL_M-CSF from venous blood, on Genome GRCh38

  RNA-Seq data for 1 sample(s) for monocyte T=6day_S100A9_RANKL_M-CSF 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 EGAD00001002960

• BLUEPRINT September 2016, RNA-Seq for monocyte T=1day_M-CSF_S100A9_4hr_RANL from venous blood, on Genome GRCh38

  RNA-Seq data for 1 sample(s) for monocyte T=1day_M-CSF_S100A9_4hr_RANL 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 EGAD00001002959

• BLUEPRINT September 2016, RNA-Seq for monocyte T=2day_RANK_M-CSF from venous blood, on Genome GRCh38

  RNA-Seq data for 1 sample(s) for monocyte T=2day_RANK_M-CSF 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 EGAD00001002957

• BLUEPRINT September 2016, RNA-Seq T-cell lymphoma for helper T cell from venous blood, on Genome GRCh38

  RNA-Seq data for 2 sample(s) T-cell lymphoma for helper T cell from venous blood, on Genome GRCh38. 2 run(s), 2 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 EGAD00001002956

• BLUEPRINT September 2016, RNA-Seq for monocyte T=0day from venous blood, on Genome GRCh38

  RNA-Seq data for 1 sample(s) for monocyte T=0day 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 EGAD00001002955

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

  RNA-Seq data for 8 sample(s) Acute Lymphocytic Leukemia for precursor B cell from bone marrow, on Genome GRCh38. 8 run(s), 8 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 EGAD00001002953

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

  RNA-Seq data for 2 sample(s) Acute Myeloid Leukemia for myeloid cell from venous blood, on Genome GRCh38. 2 run(s), 2 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 EGAD00001002968

• BLUEPRINT September 2016, RNA-Seq for monocyte T=6day_RANK_M-CSF from venous blood, on Genome GRCh38

  RNA-Seq data for 1 sample(s) for monocyte T=6day_RANK_M-CSF 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 EGAD00001002967

• BLUEPRINT September 2016, RNA-Seq for monocyte T=10day_RANK_M-CSF from venous blood, on Genome GRCh38

  RNA-Seq data for 1 sample(s) for monocyte T=10day_RANK_M-CSF 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 EGAD00001002966

• BLUEPRINT September 2016, RNA-Seq for monocyte T=2day_S100A9_RANKL_M-CSF from venous blood, on Genome GRCh38

  RNA-Seq data for 1 sample(s) for monocyte T=2day_S100A9_RANKL_M-CSF 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 EGAD00001002965

• BLUEPRINT September 2016, RNA-Seq for monocyte T=1day_4hr_RANK from venous blood, on Genome GRCh38

  RNA-Seq data for 1 sample(s) for monocyte T=1day_4hr_RANK 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 EGAD00001002964

• BLUEPRINT September 2016, ChIPmentation for central memory CD8-positive, alpha-beta T cell from venous blood, on Genome GRCh38

  ChIPmentation data for 2 sample(s) for central memory CD8-positive, alpha-beta T cell from venous blood, on Genome GRCh38. 11 run(s), 7 experiment(s), 7 alignment(s). Part of BLUEPRINT (September 2016).

  Dataset EGAD00001002924

• BLUEPRINT September 2016, ChIPmentation for immature conventional dendritic cell GM-CSF_IL4_T=6_days from venous blood, on Genome GRCh38

  ChIPmentation data for 1 sample(s) for immature conventional dendritic cell GM-CSF_IL4_T=6_days from venous blood, on Genome GRCh38. 2 run(s), 1 experiment(s), 1 alignment(s). Part of BLUEPRINT (September 2016).

  Dataset EGAD00001002925

• BLUEPRINT September 2016, ChIPmentation for effector memory CD4-positive, alpha-beta T cell from venous blood, on Genome GRCh38

  ChIPmentation data for 1 sample(s) for effector memory CD4-positive, alpha-beta T cell from venous blood, on Genome GRCh38. 2 run(s), 2 experiment(s), 2 alignment(s). Part of BLUEPRINT (September 2016).

  Dataset EGAD00001002926

• BLUEPRINT September 2016, ChIPmentation for central memory CD4-positive, alpha-beta T cell from venous blood, on Genome GRCh38

  ChIPmentation data for 1 sample(s) for central memory CD4-positive, alpha-beta T cell from venous blood, on Genome GRCh38. 5 run(s), 3 experiment(s), 3 alignment(s). Part of BLUEPRINT (September 2016).

  Dataset EGAD00001002927

• BLUEPRINT September 2016, ChIPmentation for CD38-negative naive B cell from cord blood, on Genome GRCh38

  ChIPmentation data for 1 sample(s) for CD38-negative naive B cell from cord blood, on Genome GRCh38. 5 run(s), 3 experiment(s), 3 alignment(s). Part of BLUEPRINT (September 2016).

  Dataset EGAD00001002929

• BLUEPRINT September 2016, ChIPmentation for class switched memory B cell from venous blood, on Genome GRCh38

  ChIPmentation data for 1 sample(s) for class switched memory B cell from venous blood, on Genome GRCh38. 2 run(s), 1 experiment(s), 1 alignment(s). Part of BLUEPRINT (September 2016).

  Dataset EGAD00001002933

• BLUEPRINT September 2016, ChIPmentation for mature conventional dendritic cell GM-CSF_IL4_T=6_days_R848_T=24hrs from venous blood, on Genome GRCh38

  ChIPmentation data for 1 sample(s) for mature conventional dendritic cell GM-CSF_IL4_T=6_days_R848_T=24hrs from venous blood, on Genome GRCh38. 2 run(s), 1 experiment(s), 1 alignment(s). Part of BLUEPRINT (September 2016).

  Dataset EGAD00001002941

• BLUEPRINT September 2016, ChIPmentation for cytotoxic CD56-dim natural killer cell from venous blood, on Genome GRCh38

  ChIPmentation data for 1 sample(s) for cytotoxic CD56-dim natural killer cell from venous blood, on Genome GRCh38. 2 run(s), 1 experiment(s), 1 alignment(s). Part of BLUEPRINT (September 2016).

  Dataset EGAD00001002934

• BLUEPRINT September 2016, ChIPmentation for effector memory CD8-positive, alpha-beta T cell from venous blood, on Genome GRCh38

  ChIPmentation data for 1 sample(s) for effector memory CD8-positive, alpha-beta T cell from venous blood, on Genome GRCh38. 2 run(s), 1 experiment(s), 1 alignment(s). Part of BLUEPRINT (September 2016).

  Dataset EGAD00001002945

• ICGC Breast Cancer Project, RNA seq

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

  Dataset EGAD00001001323

• RNA-Seq - Characterization of a Breast Patient-derived Tumor Organoid biobank from an underserved population of patients

  RNA-seq datasets of patient and patient-derived organoids

  Study EGAS50000000683

• Genomic heterogeneity recapitulated in a PDXovo model - WXS unaligned reads

  Ultra-Fast Patient-Derived Xenografts Identify Functional and Spatial Tumour Heterogeneities that Drive Therapeutic Resistance - WXS unaligned reads

  Dataset EGAD00001003590

• Genomic heterogeneity recapitulated in a PDXovo model - WXS mapped reads

  Ultra-Fast Patient-Derived Xenografts Identify Functional and Spatial Tumour Heterogeneities that Drive Therapeutic Resistance - WXS mapped reads

  Dataset EGAD00001003589

• Targeted sequencing of head and neck squamous cell carcinomas

  This dataset includes 112 head and neck tumour samples with matched normal (blood) samples sequenced using a custom hybrid capture panel.

  Dataset EGAD00001004269

• 10K Project Metagenomic

  This dataset includes metagenomic sequencing of faecal samples from 7,190 Israeli individuals. Single-end sequencing was performed using a NovaSeq sequencing platform (Illumina).

  Dataset EGAD00001010925

• Colorectal Microenvironment Spatial Mapping Dataset

  Two samples derived from a colorectal cancer female patient - tumor tissue and normal adjacent tissue analyzed via Visium Spatial Gene Expression.

  Dataset EGAD00001015675

• Temporal and Clonal Progression in Pediatric Ependymoma

  Whole genome and exome-based DNA sequencing of germline and tumor specimens from serial samples of a single patient's ependymoma. The findings reveal the extent to which treatment with radiation and chemotherapies resulted in the diversification of the tumor subclonal architecture and shaped the neo-antigen landscape, and provide new insights into possible molecular mechanisms of oncogenesis, treatment response and recurrence.

  Study phs001461

• Relapsed Acute Lymphoblastic Leukemia (ALL): Mutational Landscape

  Multi-agent combination chemotherapy can be curative in acute lymphoblastic leukemia (ALL). Still, patients with primary refractory disease or those with relapsed leukemia have a very poor prognosis. Here we report the mutational landscape of matched diagnostic and relapsed pediatric and adult ALL samples. Our data provides comprehensive annotation of genetic lesions acquired at relapse and reveals diagnostic and relapse-specific mutational mechanisms in ALL.

  Study phs001951

• Inhibiting DNA Methylation Causes an Interferon Response in Cancer via dsRNA Including Endogenous Retroviruses

  We show that DNA methyltransferase inhibitors (DNMTis) upregulate immune signaling in cancer through the viral defense pathway and re-expression of epigenetically silenced endogenous retrovirus. In melanoma patients treated with an immune checkpoint therapy, high viral defense signature expression in tumors significantly associates with durable clinical response and DNMTi treatment sensitizes to anti-CTLA4 therapy in a pre-clinical melanoma model.

  Study phs001038

• DDX50 Cooperates With STAU1 to Effect Stabilization of Pro-Differentiation RNAs

  This study was undertaken to determine the role of DDX50 in epidermal homeostasis. Primary neonatal foreskin keratinocytes were obtained from discarded surgical samples at a California hospital. Samples were anonymous and not selected. DDX50, which was associated with STAU1, was found to promote epidermal differentiation and transcript stability using the methods of RNA-seq, CLIP-seq and DMS-MaP-seq.

  Study phs003766

• Somatic inflammatory gene mutations accumulate in human ulcerative colitis epithelium

  We performed whole exome sequencing and targeted sequencing of ulcerative colitis with/without colitis associated neoplasm and healthy indivisuals. The aim of this study was to calculate the influence of inflammation and age on a count of genetic mutations in colonic epithelium, and to identify the specific signal pathways on which the significant genetic mutations accumulating in ulcerative colitis patients' colonic epithelium.

  Study JGAS000199

• Detection of causative structural variants using long read whole genome sequencing in patients with non-syndromic autism spectrum disorder

  This study involved performing long read whole genome sequencing using Oxford Nanopore Technology platform on to detect causative structural variants in patients with non-syndromic autism spectrum disorder. This study was performed on 23 such children in whom prior karyotyping, Fragile-X analysis (in males), chromosomal microarray and whole exome sequencing did not identify a causative variant.

  Study EGAS50000000842

• HipSci___Whole_Exome_sequencing___Congenital_hyperinsulinia

  The HipSci project brings together diverse constituents in genomics, proteomics, cell biology and clinical genetics to create a UK national iPS cell resource and use it to carry out cellular genetic studies. In this sub-study we perform whole exome sequencing using Agilent whole exome pulldown method on iPS cells generated from skin biopsies or blood samples from rare disease patients diagnosed with congenital hyperinsulinia

  Study EGAS00001001977

• HipSci___Whole_Exome_sequencing___Kabuki

  The HipSci project brings together diverse constituents in genomics, proteomics, cell biology and clinical genetics to create a UK national iPS cell resource and use it to carry out cellular genetic studies. In this sub-study we perform whole exome sequencing using Agilent whole exome pulldown method on iPS cells generated from skin biopsies or blood samples from rare disease patients diagnosed with Kabuki syndrome

  Study EGAS00001001981

• HipSci HumanExome BeadChip analysis - Hereditary Cerebellar Ataxias

  The HipSci project brings together diverse constituents in genomics, proteomics, cell biology and clinical genetics to create a UK national iPS cell resource and use it to carry out cellular genetic studies. In this sub-study we performed Genotyping analysis using the Infinium HumanExome BeadChip on iPS cells generated from skin biopsies or blood samples from rare disease patients diagnosed with Hereditary Cerebellar Ataxias.

  Study EGAS00001002005

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

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

  Study EGAS00001007117

• HipSci HumanExome BeadChip analysis - monogenic diabetes

  The HipSci project brings together diverse constituents in genomics, proteomics, cell biology and clinical genetics to create a UK national iPS cell resource and use it to carry out cellular genetic studies. In this sub-study we performed Genotyping analysis using the Infinium HumanExome BeadChip on iPS cells generated from skin biopsies or blood samples from rare disease patients diagnosed with monogenic diabetes.

  Study EGAS00001001273

• HipSci___Whole_Exome_sequencing___Cardiomyopathy

  The HipSci project brings together diverse constituents in genomics, proteomics, cell biology and clinical genetics to create a UK national iPS cell resource and use it to carry out cellular genetic studies. In this sub-study we perform whole exome sequencing using Agilent whole exome pulldown method on iPS cells generated from skin biopsies or blood samples from rare disease patients diagnosed with hypertrophic cardiomyopathy

  Study EGAS00001001980

• HipSci HumanExome BeadChip analysis - Kabuki syndrome

  The HipSci project brings together diverse constituents in genomics, proteomics, cell biology and clinical genetics to create a UK national iPS cell resource and use it to carry out cellular genetic studies. In this sub-study we performed Genotyping analysis using the Infinium HumanExome BeadChip on iPS cells generated from skin biopsies or blood samples from rare disease patients diagnosed with Kabuki syndrome.

  Study EGAS00001002007