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• Whole genome bisulfite sequencing on 10 multiple myeloma cases

  Whole genome bisulfite sequencing on 10 multiple myeloma cases. Data quality control and adaptor-trimmed were performed with the Trimomatic tool. Paired-reads were mapped to the hg19 human reference with methylCtools aligner.

  Dataset EGAD00001007821

• CM214 - Biomarker Analysis From the Phase 3 CheckMate 214 Trial of Nivolumab Plus Ipilimumab (N+I) or Sunitinib (S) in Advanced Renal Cell Carcinoma (aRCC)

  CM214 - Biomarker Analysis From the Phase 3 CheckMate 214 Trial of Nivolumab Plus Ipilimumab (N+I) or Sunitinib (S) in Advanced Renal Cell Carcinoma (aRCC)

  Dataset EGAD00001007938

• Single-Cell Profiling of Premature Neonate Airways Reveals a Continuum of Myeloid Differentiation

  We set out to develop a reference single-cell transcriptomic profile of airway aspirate samples from extremely premature neonates (collected within an hour of birth). In this study, we profiled samples from 10 subjects. We identified cells in the airways of premature neonates representing a continuum of myeloid differentiation, including fetal monocytes, differentiating myeloid cells, and macrophages. Trajectory analysis identified two trajectories consistent with interstitial and alveolar macrophages, and a bridging trajectory providing an alternative route between these terminal states. We defined 259 alveolar-specific genes, 666 interstitial-specific genes, and 285 bridging-specific genes providing the first single-cell transcriptional map of differentiating airway macrophages in humans.

  Study phs003427

• Genetic landscape of non-Down syndrome acute megkaryoblastic leukemia

  To define the mutation spectrum in non-Down syndrome acute megkaryoblastic leukemia (non-DS-AMKL), we performed transcriptome sequencing on diagnostic blasts from 14 pediatric patients and validated our findings in a recurrency/validation cohort consisting of 34 pediatric and 28 adult AMKL leukemia samples. Our analysis identified a cryptic chromosome 16 inversion [inv(16)(p13.3q24.3)] in 27% of pediatric cases, which encodes a CBFA2T3-GLIS2 fusion protein. Expression of CBFA2T3-GLIS2 in Drosophila and murine hematopoietic cells induced bone morphogenic protein (BMP) signaling, and resulted in a marked increase in the self-renewal capacity of hematopoietic progenitors. These data suggest that expression of CBFA2T3-GLIS2 directly contributes to leukemogenesis.

  Study EGAS00001000379

• HDAC inhibitors in synovial sarcoma cells

  Histone deacetylase (HDAC) inhibition has been shown in previous studies to disrupt the synovial sarcoma oncoprotein complex, resulting in apoptosis. To understand the molecular effects of HDAC inhibition, RNA-Seq transcriptome analysis was undertaken in six human synovial sarcoma cell lines. HDAC inhibition induced pathways of cell cycle arrest, neuronal differentiation and response to oxygen-containing species, effects also observed in other cancers treated with this class of drugs. More specific to synovial sarcoma, polycomb-group targets were reactivated including tumor suppressor CDKN2A, and pro-apoptotic transcriptional patterns were induced. Functional analyses revealed that ROS-mediated FOXO activation and pro-apoptotic factors BIK, BIM and BMF were important to apoptosis induction following HDAC-inhibition in synovial sarcoma

  Study EGAS00001002637

• Case Report: Precision medicine target revealed by in-vitro modelling of relapsed, refractory ALL from a child with neurofibromatosis

  Children with neurofibromatosis have a higher risk of developing juvenile myelomonocytic leukaemia and acute myeloid leukaemia, but rarely develop B-cell acute lymphoblastic leukaemia (B-ALL). Through in-vitro modelling, a novel NF1 p.L2467 frameshift (fs) mutation identified in a relapsed/refractory Ph-like B-ALL patient with neurofibromatosis demonstrated cytokine independence and increased RAS signalling, indicative of leukaemic transformation. Furthermore, these cells were sensitive to the MEK inhibitors trametinib and mirdametinib. Bi-allelic NF1 loss of function may be a contributing factor to relapse and with sensitivity to MEK inhibitors, suggests a novel precision medicine target in the setting of neurofibromatosis patients with B-ALL.

  Study EGAS00001006187

• Whole-exome sequencing of hepatocellular carcinoma biopsies

  All 122 HCC biopsies and 115 non-tumoral tissues from 114 patients were subjected to whole-exome sequencing. Whole-exome capture was performed using the SureSelectXT Clinical Research Exome (Agilent Technologies) or SureSelect Human All Exon V6+COSMIC (Agilent Technologies) platforms according to the manufacturer’s guidelines. Sequencing was performed on an Illumina HiSeq 2500 at the Genomics Facility Basel according to the manufacturer’s guidelines. Paired-end 101-bp reads were generated.

  Dataset EGAD00001008182

• Department of Pediatrics, The University of Tokyo, PPB Data Access Committee

  Dac EGAC00001000163

• Longitudinal DNA methylation in the Lothian Birth Cohorts of 1921 and 1936

  Dac EGAC00001000218

• The Ingham Institute Gastro-Intestinal Viral Oncology Group Genome Data Access Committee

  Dac EGAC00001000367

• DAC of the BRITROC project

  Dac EGAC00001000388

• The Danish Reference Genome - GenomeDenmark data access committee

  Dac EGAC00001000562

• MeDIP-seq data in the Peri/postnatal Epigenetics Twins Study (PETS)

  Dac EGAC00001000596

• Data Access Commitee of The First Affiliated Hospital of Nanjing Medical University

  Dac EGAC00001001209

• The Lothian Birth Cohorts Data Access Committee

  Dac EGAC00001001376

• The Egyptian Collaborative Cardiac Genomics Project Data Access Committee (ECCO-GEN DAC)

  Dac EGAC00001001594

• The Egyptian Collaborative Cardiac Genomics Project Data Access Committee (ECCO-GEN DAC)

  Dac EGAC00001001680

• Variation and transmission of the human gut microbiota across generations - 16S data

  Dac EGAC00001002344

• Variation and transmission of the human gut microbiota across generations - shotgun data

  Dac EGAC00001002355

• Data Access Committee of the Department of Molecular Neurology, UKEr

  Dac EGAC00001002695

• DAC - U1085 Team Physiology and Physiopathology of the urogenital tract (INSERM / IRSET)

  Dac EGAC00001002830

• ATAC-Seq and CTCF ChIP-Seq on the OCIAML-2 cell line

  Study EGAS00001004741

• TULIPs decorate the three-dimensional genome of PFA ependymoma

  Study EGAS00001005476

• The effects of inhaled corticosteroids on healthy airways

  Study EGAS00001007538

• A critical spotlight on the paradigms of FFPE-DNA sequencing

  Study EGAS00001005757

• DNA methylation profiles of samples included in the EORTC 26091 TAVAREC trial

  Study EGAS00001006015

• Measuring the Efficiency of Purging by Nonrandom Mating in Human Populations

  Study EGAS00001007831

• CeD_meta_analysis

  Results of the celiac diease meta-analysis

  Dataset EGAD00010001770

• CeD_Argentina_1

  Association results from the Agentinian cohort one

  Dataset EGAD00010001768

• EGAD00000000060

  Samples from the UK Glomerulonephritis DNA bank

  Dataset EGAD00000000060

• Data Access Policy of the HCEMM - Semmelweis University, Molecular Oncohematology Research Group

  Dac EGAC00001003240

• The University of Hong Kong Gastric Cancer Exome Sequencing Project Data Access Committee

  Dac EGAC00001000032

• Cancer genomics project, the University of Tokyo Data Access Committee

  Dac EGAC00001000087

• Data access committee of the Prostate Cancer Research Center, University of Tampere, Finland.

  Dac EGAC00001000423

• The Chinese University of Hong Kong Hereditary Spastic Paraplegia Data Access Committee

  Dac EGAC00001000493

• The evolutionary history of human colitis-associated colorectal cancer

  Dac EGAC00001000917

• The molecular landscape of glioma in patients with Neurofibromatosis 1

  Dac EGAC00001001004

• The Chinese University of Hong Kong (CUHK) Circulating Nucleic Acids Research Group (CNARG)

  Dac EGAC00001002557

• The Chinese University of Hong Kong (CUHK) Circulating Nucleic Acids Research Group (CNARG)

  Dac EGAC00001002696

• The Chinese University of Hong Kong (CUHK) Circulating Nucleic Acids Research Group (CNARG)

  Dac EGAC00001002697

• The Chinese University of Hong Kong (CUHK) Circulating Nucleic Acids Research Group (CNARG)

  Dac EGAC00001002723

• The Chinese University of Hong Kong (CUHK) Circulating Nucleic Acids Research Group (CNARG)

  Dac EGAC00001002732

• The Chinese University of Hong Kong (CUHK) Circulating Nucleic Acids Research Group (CNARG)

  Dac EGAC00001002815

• The Chinese University of Hong Kong (CUHK) Circulating Nucleic Acids Research Group (CNARG)

  Dac EGAC00001002879

• The Chinese University of Hong Kong (CUHK) Circulating Nucleic Acids Research Group (CNARG)

  Dac EGAC00001003017

• The Multiomics Blueprint of Extreme Human Lifespan

  Dac EGAC50000000515

• X chromosome dosage and the genetic impact across human tissues

  Study EGAS00001006996

• Analysis of the genomic landscape of chemoresistant multiple myeloma

  Study EGAS00001003709

• HDAC3 mediates the inflammatory response and LPS tolerance in human monocytes and macrophages

  Study EGAS00001004218

• The impact of urbanization and diet on innate immune responses in healthy Tanzanians

  Study EGAS00001004284

• Genomics and Modification of Pain: A peripheral component identified using iPSCs with the S241T mutation

  We have capitalized on inherited erythromelalgia (IEM) as a well-characterized genetic model of chronic pain, and studied IEM patients carrying Nav1.7 mutations which affect channel activation and often produce hyperexcitability of DRG neurons. Whole exome sequencing was used to discover multiple gene variants that might contribute to neuronal excitability and that might serve as modifiers of sensory neuron firing, and identified the Kv7.2 channel as a contributor to differences in pain profiles between individuals.

  Study phs001724

• Chromosomal instability shapes the tumor microenvironment of oesophageal adenocarcinoma via a cGAS–chemokine–myeloid axis

  This study employed whole-genome sequencing (WGS) to investigate genomic alterations in oesophagogastric adenocarcinoma, with a focus on mechanisms of chromosomal instability. Twelve tumour samples were analysed, including specimens obtained prior to neoadjuvant chemotherapy and at surgical resection. WGS was used to identify structural variants, quantify tumour mutational burden, and detect potential driver mutations across samples. The study aimed to correlate genomic measures of chromosomal instability with clinicopathological features to improve understanding of tumour biology.

  Study EGAS50000001561

• Single-nuclei RNA sequencing of pheochromocytoma and paraganglioma arising from germline SDHB mutations

  10x genomics single-nuclei RNA sequencing of 9 SDHB-deficient non-metastatic and metastatic pheochromocytoma and paraganglioma. snRNA-seq was performed using the ‘Frankenstein’ protocol (dx.doi.org/10.17504/protocols.io.bqxymxpw). Briefly, nuclei were extracted from frozen tissues and subjected to fluorescence-activated nuclei sorting (FANS) using 4′,6-diamidino-2-phenylindole (DAPI). Sorting was performed using a BD FACSaria 2 instrument, sorting between 3000 and 10,000 nuclei per sample, capturing both diploid and tetraploid populations. FAN-sorted nuclei were immediately processed using either the 10x Chromium Single Cell 5’ (PN-1000006, 4 samples) or 3’ (PN-1000075, 4 samples) Library & Gel Bead Kit (10x Genomics, USA). Once processed, snRNA-seq libraries were sequenced on the Illumina Nova-Seq 6000 (Illumina, USA) using 150bp paired-end sequencing. This dataset contains raw sequencing reads in FASTQ format.

  Dataset EGAD50000000505

• EGAD00010000630

  The TEENAGE study target population comprised adolescent students aged 13 to 15 years attending the first three classes of public secondary schools located in the wider Athens area of Attica.

  Dataset EGAD00010000630

• RNA-seq of high-grade serous ovarian cancer in long-term survivors (MOCOG study)

  RNA-seq dataset of high-grade serous ovarian cancer (HGSC) tumours from long-term survivors performed as part of the Multidisciplinary Ovarian Cancer Outcomes Group (MOCOG) study. The dataset includes fastq files from 56 HGSC tumours (53 primary tumours and 3 recurrent tumours) from 53 long-term survivor patients. Libraries were generated using the Illumina Stranded mRNA Prep and 150 bp paired-end sequencing was performed to a minimum of 100 million reads on Illumina NovaSeq 6000 instruments.

  Dataset EGAD00001008537

• Direct transcriptional consequences of somatic mutation in breast cancer

  The disordered transcriptomes of cancer encompass direct effects of somatic mutation on transcription; co-ordinated secondary alterations in transcriptional pathways; and increased transcriptional noise. To catalogue the rules governing how somatic mutation Overall, 59% of 6980 exonic substitutions were expressed. Compared to other classes, nonsense mutations showed lower expression levels than expected with patterns characteristic of nonsense-mediated decay. 14% of 4234 genomic rearrangements caused transcriptional abnormalities, including exon skips, exon reusage, fusion transcripts and premature poly-adenylation. We found productive, stable transcription from sense-to-antisense gene fusions and gene-to-intergenic rearrangements, suggesting that these mutation classes may drive more transcriptional disruption than previously suspected. Systematic integration of transcriptome with genome data therefore reveals the rules by which transcriptional machinery interprets somatic mutation.

  Dataset EGAD00001002236

• The University of Hong Kong Gastric Cancer Genomics Study Data Access Committee

  Dac EGAC00001000136

• The University of Hong Kong Gastric Cancer Organoids Genomics Study Data Access Committee

  Dac EGAC00001000981

• The Scientific ethical comittee capital region of Denmark (De videnskabs etiske komiteer region hovedstaden)

  Dac EGAC00001001063

• Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants Data Access Committee

  Dac EGAC00001001147

• Data Access Commitee Polymorphisms in the Mitochondrial Genome associated with Bullous Pemphigoid in Germans

  Dac EGAC00001001341

• DAC: The genomic landscape of primary cutaneous anaplastic large cell lymphoma (pcALCL)

  Dac EGAC00001001607

• The Chinese University of Hong Kong (CUHK) Circulating Nucleic Acids Research Group (CNARG)

  Dac EGAC00001002733

• The University of Hong Kong Gastric Cancer Organoids RHO Signaling Study Data Access Committee

  Dac EGAC00001002705

• LEMA

  This DAC will govern access to WES data associated with the LEMA publication

  Dac EGAC50000000560

• scATAC-seq and combined scRNA-seq of the human first trimester neurodevelopment

  Study EGAS00001007472

• Targeted next-generation sequencing of 13 chordoid gliomas of the third ventricle

  Study EGAS00001002733

• Evaluation of the immune effects of tumor-treating electric fields (TTFields) in GBM patients

  Study EGAS00001005392

• The colon KRAS/BRAF variants detection set

  Dataset EGAD00001000835

• Whole-exome sequencing of glioblastomas with long-term relapse interval

  Whole-exome sequencing data (Agilent SureSelectXT Human All Exon V7). Retrospective study of matched pairs of initial and post-therapeutic GBM cases treated with temozolomide+radiotherapy with a recurrence period greater than one year. Matched normal, initial and post-therapeutic samples for 27 patients and 1 patient (GBM046) with a matched normal and two post-therapeutic samples.

  Dataset EGAD00001008568

• Bulk ATAC-Seq HiSeq2500 v4 reagents (100M reads)

  Human data for chromatin accessibility (ATAC-Seq) in eight B-cell precursors: HSC, CLP, pro-B, pre-B, Immature B, Transitional B, Naive B CD5-, Naive B CD5+ cells

  Dataset EGAD00001010909

• ChIP-seq bulk

  This dataset gather ChIP-seq data produced by immunoprecipitating CTCF factor in own laboratory in MM.1S cell line in EtOH and Dex conditions. It also gather ChIP-seq dataset produced by external laboratory (Active Motif) for H3K27ac mark and GR transcription factor in same cell line and conditions ( MM.1S ETOH/Dex)

  Dataset EGAD00001011136

• Prostate WGS data (early onset)

  Whole genome sequencing for 131 early onset prostate tumor/control pairs (ICGC)

  Dataset EGAD00001003256

• Prostate WGS data (late onset)

  Whole genome sequencing for 12 late onset prostate cancer tumor/control pairs (ICGC)

  Dataset EGAD00001003290

• McGill EMC Community projects Release 7 for cell line "hTERT RPE1"

  Complete reference epigenome (as defined by IHEC) of normal hTERT RPE1 cell line as well as hTERT RPE1 cell lines engineered to express EPC1-PHF1 and JAZF1-SUZ12 fusion proteins, found in Endometrial Stromal Sarcoma.

  Dataset EGAD00001007680

• Whole exome sequencing in patients with ALS and concomitant FTD lacking the C9orf72 repeat expansion

  Dac EGAC00001000656

• Effect of aging on chromatin accessibility and gene expression in immune cells, The Jackson Laboratory

  Dac EGAC00001000721

• Committee of human data related to the manuscript by Germano et al. Ms2016-04-06029

  Dac EGAC00001000750

• Somatic pathogenic variants in the normal mammary gland of sporadic breast cancer patients.

  Dac EGAC00001002391

• The genomic landscape of early-stage ovarian high grade serous carcinoma Data Access Commitee

  Dac EGAC00001002547

• The Chinese University of Hong Kong (CUHK) Circulating Nucleic Acids Research Group (CNARG)

  Dac EGAC00001002708

• The Chinese University of Hong Kong (CUHK) Circulating Nucleic Acids Research Group (CNARG)

  Dac EGAC00001003026

• The European MAPPYACTS trial: Precision Medicine Program in Pediatric and Adolescent Patients with Recurrent Malignancies

  Dac EGAC00001003276

• Genomic validation of the revised Bethesda criteria in terms of pathogenesis and oncologic significance

  Study EGAS00001003959

• DAC Neurology UKW

  DAC of the Department of Neurology, University Hospital Würzburg (UKW), Würzburg, Germany

  Dac EGAC50000000425

• Single-cell dissection of the immune response after a myocardial infarction

  Study EGAS00001007021

• The whole genome landscape of Burkitt lymphoma subtypes

  Study EGAS00001003778

• Genotype data from 'Evidence of the interplay of genetics and culture in Ethiopia'

  Study EGAS00001005171

• Minor intron splicing efficiency increases with the development of lethal prostate cancer

  Study EGAS00001005546

• Comprehensive Whole-Genome Sequence Annotation to Resolve the Genetic Architecture of Cerebral Palsy

  Study EGAS00001006724

• Whole genome sequencing dataset of 200 trio families from the CHILD cohort study.

  Study EGAS00001006725

• The genome-wide mutational consequences of DNA hypomethylation

  Study EGAS00001006845

• The paired FF/FFPE colon set, Exome-Seq

  Dataset EGAD00001000834

• EGAD00000000109

  Gabriel samples from the UK SEVERE cohort

  Dataset EGAD00000000109

• EGAD00000000108

  Gabriel samples from the UK AUGOSA cohort

  Dataset EGAD00000000108

• EGAD00000000107

  Gabriel samples from the multicenter occupational cohort

  Dataset EGAD00000000107

• EGAD00000000106

  Gabriel samples from the multicenter occupational cohort

  Dataset EGAD00000000106

• EGAD00000000105

  Gabriel samples from the multicenter occupational cohort

  Dataset EGAD00000000105

• EGAD00000000104

  Gabriel samples from the Russian UFA cohort

  Dataset EGAD00000000104

• EGAD00000000103

  Gabriel samples from the Russian UFA cohort

  Dataset EGAD00000000103