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• Whole-exome and targeted sequencing of pediatric hyperdiploid B-cell precursor acute lymphoblastic leukemia

  High hyperdiploidy defines the largest genetic entity of childhood acute lymphoblastic leukemia (ALL). Despite its relatively low recurrence risk, this subgroup generates a high proportion of relapses. The cause and origin of these relapses remains obscure. We therefore explored the mutational landscape in high hyperdiploid (HD) ALL with whole-exome (n=19) and subsequent targeted deep sequencing of 60 genes in 100 relapsing and 51 non-relapsing cases. We identified multiple clones at diagnosis that were primarily defined by a variety of mutations in receptor tyrosine kinase (RTK)/Ras pathway and chromatin-modifying genes. The relapse clones consisted of reappearing as well as new mutations, and overall contained more mutations. Although RTK/Ras pathway mutations were similarly frequent between diagnosis and relapse, both intergenic and intragenic heterogeneity was essentially lost at relapse. CREBBP mutations, however, increased from initially 18-30% at relapse, then commonly co-occurred with KRAS mutations (P<0.001) and these relapses appeared primarily early (P=0.012). Our results confirm the exceptional susceptibility of HD ALL to RTK/Ras pathway and CREBBP mutations, but, more importantly, suggest that mutant KRAS and CREBBP might cooperate and equip cells with the necessary capacity to evolve into a relapse-generating clone.

  Study EGAS00001001113

• Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma

  Sequence reads for pediatric GBM samples for manuscript: Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma

  Dataset EGAD00001000134

• Single-cell Full Transcriptome RNA sequencing

  Single cell full transcriptome sequencing of CD19 CAR T-cell infusion products used for standard of care treatment for relapsed/refractory large B-cell lymphoma.

  Dataset EGAD50000000201

• WGS dataset for gamma delta (γδ) T-ALL patients

  Whole genome sequencing data for 61 samples with acute lymphoblastic leukemia expressing the gamma delta T cell receptor (γδ T-ALL) and 29 germline samples

  Dataset EGAD50000000028

• RNA-seq data for genomic determinants of response and resistance to inotuzumab in B-ALL

  RNA-seq data for 101 samples with B-cell acute lymphoblastic leukemia

  Dataset EGAD50000000095

• Massachusetts General Hospital Cancer Center DAC for high-throughput microfluidic enrichment from whole leukopak for CTC-based liquid biopsy

  Whole genome sequencing and whole exome sequencing data of circulating tumor cells isolated from patients with metastatic prostate cancer and liver cancer.

  Dac EGAC50000000423

• scRNA-seq for 4 reactive lymph node and 12 high grade B cell lymphoma samples

  Dataset includes count matrices, barcode tsvs, and features tsv for each sample, generated using Cell Ranger.

  Dataset EGAD50000001386

• Targeted Capture DNA Sequencing

  We performed targeted capture DNA sequencing for 29 genes in extranodal NK/T-cell lymphoma, nasal type (n=67).

  Study JGAS000548

• Genome-wide genotyping and methylation data from Understanding Society

  Genome-wide genotyping and methylation data from Understanding Society. Please visit https://www.understandingsociety.ac.uk/ for further information.

  Study EGAS00001008417

• A96233A

  Whole genome sequencing for single cells for library A96233A 637 cells; filetype=bam

  Dataset EGAD00001007622

• MT sequencing reads from WGS of 10 Egyptian individuals

  This data set contains for 10 Egyptian individuals the WGS reads mapping to chrM. These were subsequently used for haplogroup assignment.

  Dataset EGAD00001006038

• Single cell targeted RNA sequencing

  Single cell hybrid-capture targeted sequencing of CD19 CAR T-cell infusion products used for standard of care treatment for relapsed/refractory large B-cell lymphoma.

  Dataset EGAD00001006327

• A108735A

  Whole genome sequencing for single cells for library A108735A 714 cells; filetype=bam

  Dataset EGAD00001007593

• A98293B

  Whole genome sequencing for single cells for library A98293B 703 samples; filetype=bam

  Dataset EGAD00001008265

• lowinput RNASEQ files for Mullighan BiTE RNASEQ2

  lowinput RNASEQ files for Mullighan BiTE RNASEQ2 paper titled "Tumor intrinsic and extrinsic mechanisms of response and resistance to blinatumomab in relapsed/refractory acute lymphoblastic leukemia"

  Dataset EGAD00001005732

• A98176B

  Whole genome sequencing for single cells for library A98176B 1389 samples; filetype=bam

  Dataset EGAD00001008261

• A96178A

  Whole genome sequencing for single cells for library A96178A 788 cells; filetype=bam

  Dataset EGAD00001007115

• WES for Patient 1 to 8 of NIBIT-M4 clinical trial

  WES for Patient 1 to 8 of NIBIT-M4 clinical trial

  Dataset EGAD00001009701

• Additional RNASeq files for Roussel MBPRP

  Additional RNASeq files for Roussel paper titled "Combination of CDK4/6 with BET-bromodomain and PI3K/mTOR inhibitors in medulloblastoma in vitro and in vivo"

  Dataset EGAD00001009394

• Bam files for the whole exome sequencing from the study on Spatial homogeneity in pediatric brain tumors.

  Bam files for the whole exome sequencing from the study on Spatial homogeneity in pediatric brain tumors.

  Dataset EGAD00001001055

• A96172A

  Whole genome sequencing for single cells for library A96172A 1476 samples; filetype=bam

  Dataset EGAD00001008240

• A98294A

  Whole genome sequencing for single cells for library A98294A 994 samples; filetype=bam

  Dataset EGAD00001008266

• Single-cell Full Transcriptome RNA sequencing

  Single cell full transcriptome sequencing of CD19 CAR T-cell infusion products used for standard of care treatment for relapsed/refractory large B-cell lymphoma.

  Dataset EGAD00001006325

• A95730A

  Whole genome sequencing for single cells for library A95730A 739 cells; filetype=bam

  Dataset EGAD00001007614

• A95724B

  Whole genome sequencing for single cells for library A95724B 581 samples; filetype=bam

  Dataset EGAD00001008230

• A96216A

  Whole genome sequencing for single cells for library A96216A 1001 samples; filetype=bam

  Dataset EGAD00001008257

• A98289B

  Whole genome sequencing for single cells for library A98289B 1032 samples; filetype=bam

  Dataset EGAD00001008264

• RNA-Seq for PTPN1 project (EGAS00001000554)

  Fastq files corresponding to RNA-Seq dataset for PTPN1 project (EGAS00001000554)

  Dataset EGAD00001001646

• ChIP-Seq data for the paper titled "Orthotopic Patient-Derived Xenografts of Pediatric Solid Tumors"

  ChIP-Seq data for the paper titled "Orthotopic Patient-Derived Xenografts of Pediatric Solid Tumors"

  Dataset EGAD00001003432

• WGS files for double minute brain tumor paper.

  Whole Genome Sequencing files accompanying the paper titled "Structure and evolution of double minutes in diagnosis and relapse brain tumors". Please read the paper for more details.

  Dataset EGAD00001004337

• Exome sequencing data for Mesothelioma

  Exome sequencing data for Mesothelioma

  Dataset EGAD00001001913

• RNA-Seq data for Mesothelioma.

  RNA-Seq data for Mesothelioma.

  Dataset EGAD00001001915

• A98284A

  Whole genome sequencing for single cells for library A98284A 1265 samples; filetype=bam

  Dataset EGAD00001008262

• Sequencing data for oesophageal and related samples - Ganguli et al (sWGS)

  Data supporting: "TBC" Ganguli et al (sWGS for 75 samples)

  Dataset EGAD00001011189

• Human Dorsal Root Ganglion RNA Landscape Profiling for Neuropathic and Chronic Pain

  Bulk and spatial RNA sequencing were performed on human Dorsal Root Ganglia (DRGs), peripheral sensory nerves and nodose ganglia and relative gene abundances were calculated. Various analyses were performed: Human DRG gene expression profiles were contrasted with a panel of gene expression profiles of relevant tissues in human and mouse (integrating, among other sources, datasets from ENCODE and GTex) in order to identify. DRG-enriched gene expression, co-expression modules of DRG-expressed genes, and key transcriptional regulators in humans. Contrasting the human and mouse DRG transcriptomes to identify DRG-enriched gene expression patterns that were conserved between human and mouse, identifying putative cell types of expression of these genes, and potential known drugs that might target the corresponding gene products. Characterization of non-coding RNA profile of human and mouse DRGs. Characterization of DRG-enriched alternative splicing and alternative transcription start site usage based transcript variants in humans and mouse, and the overlap between these two species. Contrasting of human DRG and GTex human tibial nerve samples to identify putative axonally transported mRNAs in sensory neurons. Human DRG and peripheral nerves transcriptomes from donors suffering from neuropathic and/or chronic pain were contrasted with controls to identify. Differentially expressed genes, pathways and regulators path play a potential role in neuronal plasticity, electrophysiological activity, immune signaling and response. Predictive models (Random Forests) were built to jointly predict the sex and pain state of samples based on information contained solely in autosomal gene expression profile. Gene co-expression modules were identified and gene set enrichment analysis performed.to identify sample - pathway associations, and to broadly characterize plasticity in human DRG cell types. Spatial transcriptomics was performed on human DRGs and nodose ganglia to obtain near single-neuron resolution. We identified distinct clusters of human DRG sensory neurons. We characterized the expression of different gene families (e.g., GPCRs, sodium channels, potassium channels, etc.). We investigated differences between male and female neurons.

  Study phs001158

• EGAD00010000389

  Cambridge control samples using a 24k expression array from Illumina

  Dataset EGAD00010000389

• Determining the quality and complexity of NGS data without a reference genome

  Dataset EGAD00001000759

• EGA_PBC_phased

  A cohort of 2886 participants of the Japan PBC-GWAS Study

  Dataset EGAD00010001533

• Array_data_psychosis

  Array data from a family with high prevalence of psychosis

  Dataset EGAD00010002028

• Array_data

  Array data from a family with high prevalence of psychosis

  Dataset EGAD00010002030

• Whole Exome Sequencing of Bipolar cases and matched controls performed at the Broad Institute on a cohort from Dublin, Ireland.

  Study EGAS00001005844

• Whole Exome Sequencing of Bipolar cases and matched controls performed at the Broad Institute on a cohort from Umea, Sweden.

  Study EGAS00001005842

• Whole Exome Sequencing of Bipolar cases and controls performed at the Broad Institute on a cohort from Cardiff, UK (Craddock)

  Study EGAS00001005845

• Whole Exome Sequencing of Bipolar cases and matched controls performed at the Broad Institute on a cohort from Cambridge, UK

  Study EGAS00001005854

• Whole Exome Sequencing of Bipolar cases and matched controls performed at the Broad Institute on a cohort from London, UK

  Study EGAS00001005851

• A single cell view on host immune transcriptional response to in vivo BCG-induced trained immunity

  Study EGAS00001006990

• Assessment of genomic copy number alterations in breast cancer

  The aim of this study was to assess genomic copy number alterations in a panel of breast cancer cell lines. These data were used to identify common aberrations associated with breast cancer, and also to identify aberrations associated with response to therapeutic compounds.

  Study EGAS00000000059

• Quantitative Exploratory Proteomics Analysis of Glioblastoma in Initial and Recurrent Tumors

  Shotgun Proteomics; Glioblastoma samples from 11 patients were obtained at initial and recurrent tumor stages. Proteins were extracted, identified and quantified via tandem mass spectrometry based on a TMT isobaric labelling approach. Quatitative proteomics reveals 146 differentially abundant proteins using a patient-matched statistical modelling. Analysis of proteolytic processing reveals differential proteolytic patterns in recurrent tumors. Proteogenomics reveals the presense of 30 single-amino acid variants present in glioblastoma tumor and 1 of those as increased in recurrent tumor.

  Dataset EGAD00010002350

• Multi-Omic Analysis of Von Willebrand Factor Regulation in Endothelial Colony Forming Cells

  This study evaluated the multi-omic analysis of endothelial cells with a focus on von Willebrand factor regulation, and investigated aspects of endothelial regulation in the context of blood disorders. The data available at dbGaP consist of multi-omic analyses of these cells. 

  Study phs002731

• Familial Exome Sequencing in Rare Pediatric Phenotypes

  To discover novel candidate genes associated with rare Mendelian phenotypes, we will conduct individual genomic and phenotypic characterization using genome-wide array, pedigree exome sequencing, candidate genotyping, and pertinent clinical testing to define phenotype. Pedigrees included in this submission will have a variety of clinical pathological phenotypes.

  Study phs000553