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• PLCRC_study

  Genomic libraries (500 bps) will be generated from total genomic DNA derived from Colorectal cancer patients and subjected to short paired end sequencing on the llumina platform. Paired reads will be mapped to build 37 of the human reference genome to facilitate the generation of genome wide copy number information, and the identification of novel rearranged cancer genes and gene fusions.

  Study EGAS00001000612

• SCAT_osteosarcoma_sequencing

  Agilent whole exome hybridisation capture will be performed on genomic DNA derived from 50 osteosarcoma cancers and matched normal DNA from the same patients. Three lanes of Illumina GA sequencing will be performed on the resulting 100 exome libraries and mapped to build 37 of the human reference genome to facilitate the identification of novel cancer genes

  Study EGAS00001000196

• Cancer_Genome_Libraries_Tests

  Testing library production.Genomic libraries (500 bps) will be generated from total genomic DNA derived from commomon epithelial cancer samples and subjected to paired end sequencing on the llumina plateforms. Paired reads will be mapped to build 37 of the human reference genome to facilitate the generation of genome wide copy number information, and the identification of novel rearranged cancer genes and gene fusions.

  Study EGAS00001000208

• Lymphoctye_colony_WGS

  We study lymphocyte somatic evolution through the sequencing of normal healthy lymphocytes. We perform whole-genome sequencing of single-cell derived T and B cell colonies to identify somatic mutations, and perform targeted deep-sequencing of these mutations. The lineages of T and B cells, and the frequencies of these mutations reveals the neutral and non-neutral evolutionary processes underlying lymphocyte growth and function.

  Study EGAS00001002948

• Separation, characterization, and identification of individuals from multi-person blood mixtures with single cell transcriptome sequencing and a novel bioinformatics pipeline

  We report a deconvolution and identification strategy of scRNA-seq datasets using mixed PMBCs data. After sequencing the data were processed with the de-goulash pipeline and analyzed with aim to identify and aquire biogeogrpahical ancestry of the involved individuals. The study includes samples of biological mixtures and in silico mixtures.

  Study EGAS00001006202

• Somatic Mosaicism in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

  The study was designed to investigate the role of somatic mosaic mutations in the pathogenesis of sporadic amyotrophic lateral sclerosis (sALS) and frontotemporal dementia (sFTD). A panel of molecular inversion probes (MIP) were used to target the exons and exon-intron junctions of 88 neurodegeneration-related genes. The panel included 34 ALS/FTD genes, 10 Alzheimer's disease genes, 28 Parkinson's disease genes, and 16 genes associated with other rare neurodegenerative disorders. The panel was used to perform ultra-deep sequencing on postmortem brain and spinal cord from 404 individuals with sALS or sFTD and 144 age-matched neurotypical controls. Known pathogenic germline mutations were found in 20.6% of ALS cases and 26.5% of FTD cases. Predicted pathogenic somatic mutations were observed in 2.7% of sALS and sFTD cases that did not have known germline mutations. The somatic variants had low variant allele fraction and region-specific enrichment, particularly in the primary motor cortex of sALS cases and prefrontal cortex of sFTD cases.

  Study phs003530

• Unraveling the heterogeneity of multiple myeloma identifies therapy resistant subpopulation with vulnerability to the splicing pathway intervention

  Intra-tumor heterogeneity underlies the therapy resistance of multiple myeloma (MM). However, its details remain unknown. Here, we performed single-cell RNA sequencing coupled with VDJ targeted sequencing on highly purified bone marrow lineage marker-negative CD38+ MM cells from patients at diagnosis and in remission. This approach successfully subdivided MM cells into distinct clusters, unraveling their heterogeneity and plasticity on the axis of cell surface CD138 expression. Notably, unique clusters were identified in the minor CD138-negative population that resisted therapies. CRISPR/Cas9 screening of upregulated genes in the resistant population identified their vulnerability to the splicing pathway inhibition, among which RNA-binding protein 39 (RBM39) appeared to be overexpressed in the resistant population and involved in aberrant splicing. Genetic and pharmacological inhibition of RBM39 exerted a profound synthetic lethal effect on them. Our results unveil an uncharacterized subpopulation associated with therapy resistance and provide a novel therapeutic strategy targeting the splicing pathway in MM.

  Study JGAS000723

• Investigation of the genetic basis of the rare syndrome Post-Transfusion Purpura (PTP)

  Investigation of the genetic basis of the rare syndrome Post-Transfusion Purpura (PTP)

  Dataset EGAD00001000026

• Elucidation of the pathomechanism of inflammatory muscle diseases using multi-omics analysis

  This study aims to elucidate the pathomechanism of inflammatory muscle disease. We performed multi-omics analysis of muscle biopsy samples from the patients.

  Study JGAS000636

• Whole-genome sequencing analysis of low-grade astrocytomas within the ICGC PedBrain Tumor Project

  In order to investigate the full range of genetic alterations contributing to the tumourigenesis of low-grade astrocytoma, we have conducted a next-generation sequencing-based analysis on a large series of matched tumor-normal pairs. This study, conducted by the International Cancer Genome Consortium PedBrain Tumor Project (ICGC PedBrain, http://www.pedbraintumor.org/), has revealed multiple new insights into the biological basis of this tumor entity.

  Study EGAS00001000381

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

  The repeatability of longitudinal measures of whole blood DNA methylation (obtained using the Illumina 450k chip) was assessed in two cohorts of ageing. The Lothian Birth Cohort of 1921 and the Lothian Birth Cohort of 1936. Data were collected at ages 70, 73, and 76 (LBC1936) and 79, 87, 90 (LBC1921) with 478 participants having two or more measures of methylation.

  Study EGAS00001000910

• Disease specific alterations in the olfactory mucosa of patients with Alzheimer’s disease

  The sample AD_Library_1, AD_Library_2 and Control_Library were run on a Chromium Chip B with the Chromium Single Cell 3′ Library & Gel Bead Kit v3 kit (10x Genomics, CA, USA) . The 3’ gene expression libraries were sequenced at an approximate depth of 50,000 reads per cell using the NovaSeq 6000 S1 (Illumina, San Diego, CA, USA) flow cells. Cell Ranger v.3.0.2 was used to analyze the raw base call files. FASTQ files and raw gene-barcode matrices were generated and aligned human genome GRCh37 (hg19). The samples were integrated in R v.4.0.3 and generated Seurat objects, two related to AD samples and one to control samples, were analyzed using the Seurat package v.4.0.3 to perform downstream analysis, clustering of the cells and differential expression.

  Dataset EGAD00001008560

• Microbial signatures and innate immune gene expression in lamina propria phagocytes of inflammatory bowel diseases patients

  The microbial populations associated with the lamina propria phagocyte population in CD and UC patients was examined. Specifically, the differences between phagocyte-associated microbiota (PAM) and mucosa-associated microbiota were determined.

  Study EGAS00001003105

• BLUEPRINT Epigenetic characterization of megakaryocytes and erythroblasts

  Megakaryocytes and erythroblasts derive from the same progenitor cell type but carry out very different functions. In order to understand how the different functional phenotypes arise we have characterised the epigenetic landscape of these cells.

  Study EGAS00001001641

• Visium CytAssist Spatial Gene Expression analysis for FFPE glioblastoma samples

  This study used spatial transcriptomics to investigate gene expression patterns in FFPE glioblastoma tumor samples from four patients.

  Study EGAS50000001242

• BCAC TIIC data

  TIIC dataset generated by BCAST project in BCAC from tumor cores from 12,285 breast cancer patients. Includes automated scores (multiply imputed) for CD8, CD20, CD163 and FOXP3 in all tissue, stromal and tumour tissue separately. Linked clinical patient data.

  Dataset EGAD50000002125

• johannesburg_20150706_autosomes

  Genotype data and (in binary PLINK format) and imputed data (with merged 1000Gp3 and AGVP reference panel in GEMMA BIMBAM dosage format) for 750 individuals from Respiratory and Meningeal Pathogens Unit in Soweto, South Africa - autosomes.

  Dataset EGAD00010002582

• Immunochip_genotypes

  Intensity files for Immunochip genotypes from blood

  Dataset EGAD00010001495

• Human serum small non-coding RNA sequencing

  Human small non-coding RNA sequencing of serum from sons of PCOS mothers (n=9) and sons of control mothers (n=9), see publication for details.

  Dataset EGAD00001010165

• Long-read amplicon sequencing data per risk gene

  Each gene contains individual nanopore long-read amplicon sequencing FASTQ files for: individual (IND) 01-05 and brain regions: Brodmann Area (BA): 10, 24, 9, 46, caudate (CAUD), cerebellum (CBM) and temporal cortex (TCX).

  Dataset EGAD00001015350

• RNA-seq dataset of CD34+ HSPCs from LRMDS patients

  To profile transcriptional alterations of HSPCs in LR-MDS patients, 7AAD−CD45+Lin-CD235a−CD34+ cells were isolated from healthy donors and LR-MDS patients for RNA sequencing.

  Dataset EGAD00001015771

• 4C-seq data

  4C-seq data was generated for regions of interest to confirm enhancer-gene promoter interactions

  Dataset EGAD00001001847

• JIA family

  Exome sequencing data for two sibs with juvenile idiopathic arthitis and one unaffected sib

  Dataset EGAD00001004806

• WGS, RNA-seq and methyl-seq data for multiple tumour clones from a single glioblastoma case.

  10 bams of WGS data from HiSeqXTen platform; 10 bams of RNA-seq data from HiSeq2500 platform; 7 bams of TruSeq Methyl Capture EPIC sequencing data from HiSeq4000 platform

  Dataset EGAD00001004773

• Targeted panel sequencing for brainstem glioma

  Targeted panel sequencin on Illumina HiSeq X Ten of brainstem glioma primary tumor and blood samples

  Dataset EGAD00001006093

• WES raw data for study "Molecular and functional profiling of plasmablastic lymphoma"

  1 cell line and 123 patient samples including 38 normal (22 paired normal and 16 unpaired), 85 tumor-initial, FASTQ file types, Agilent SureSelect Human All Exon V6 Kit

  Dataset EGAD00001006400

• HCV infected liver biopsy RNASeq from Boson clinical trial

  Bulk RNAseq from HCV infected liver biopsies. Two fastq files per sample for Paired end sequecing. Some samples were sequenced on multiple plates.

  Dataset EGAD00001006911

• miR-17-92 organoids

  Organoid cultures derived from colorectal adenomas were transduced with a miR-17-92 expressing vector. RNA from miR17-92-overexpressing organoids and respective non-transduced organoids (controls) was isolated for expression analysis.

  Dataset EGAD00001008480

• High-resolution analysis for urinary DNA jagged ends

  consists 17 cases, 7 control cases and 10 cancer cases.

  Dataset EGAD00001008594

• T19_Yemen

  Sequencing of 50 individuals from Yemen to study the demographic history of the region

  Study EGAS00001002083

• T19_Chad_xten

  Sequencing of 8 individuals from Chad to study the demographic history of the region

  Study EGAS00001002082

• NeurOmics_HD_Modifier_V1

  48 samples from the TRACK-HD cohort. All samples carry the Huntington’s disease expansion. The subjects were selected on the basis of rate of disease progression.

  Dataset EGAD00001002695

• Randomized Phase II 2 x 2 Factorial Trial of the Addition of Carboplatin +/- Bevacizumab to Neoadjuvant Weekly Paclitaxel Followed by Dose-Dense AC in Hormone Receptor-Poor/HER2-Negative Resectable Breast Cancer

  This randomized phase II trial studies how well paclitaxel with or without carboplatin and/or bevacizumab followed by doxorubicin and cyclophosphamide works in treating patients with breast cancer that can be removed by surgery. Drugs used in chemotherapy, such as paclitaxel, carboplatin, doxorubicin, and cyclophosphamide, work in different ways to stop the growth of tumor cells, either by killing the cells or by stopping them from dividing. Bevacizumab may stop the growth of tumor cells by blocking blood flow to the tumor. Giving chemotherapy together with bevacizumab before surgery may make the tumor smaller and reduce the amount of normal tissue that needs to be removed. All participants in this study were female.

  Study phs001863

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

  The mammary gland undergoes hormonally stimulated cycles of proliferation, lactation and involution. We hypothesized that these factors increase the mutational burden in glandular tissue and may explain high cancer incidence rate in the general population and recurrent disease. Hence, we investigated the DNA sequence variants in the normal mammary gland, tumor and peripheral blood from 52 reportedly sporadic breast cancer patients, including breast-conserving surgery cases. Targeted resequencing of 542 cancer associated genes revealed mosaic somatic pathogenic variants of: PIK3CA, TP53, AKT1, MAP3K1, CDH1, RB1, NCOR1, MED12, CBFB, TBX3 and TSHR in the normal mammary gland, at considerable allelic frequencies (9x10-2 to 5.2x10-1) indicating clonal expansion. Further evaluation of the frequently damaged PIK3CA and TP53 genes by ultra-sensitive duplex sequencing demonstrated a diversified picture of multiple low level-mosaic (in 10-2 to 10-4 alleles) hotspot pathogenic variants. Our results raise a question about the oncogenic potential in non-tumor mammary gland tissue of breast-conserving surgery patients.

  Study EGAS00001005698

• 4C-seq data of a primary AML with t(3;8)

  The viewpoints used in the 4C-seq data were either the EVI1 promoter or the MYC super-enhancer

  Dataset EGAD00001006818

• Reconstruction of the microbial genomes from the Japanese gut metagenome

  We performed a metagenome shotgun sequencing to identify the microbial features of Japanese.

  Study JGAS000531

• Large scale familial CRC exome sequencing study

  The burden of rare disruptive mutations to the heritable risk of colorectal cancer

  Study EGAS00001001666

• Enrichment Data

  Fresh fecal samples were donated from healthy individuals. We evaluated the responses of healthy adult fecal microbiota to distinct carbon source conditions, pH levels and redox potentials. Metabolite concentrations were measured by HPLC. The total genomic DNA was extracted, sequenced and analyzed. The research project was approved by the Ethic Committee of the Canton of Zurich (2017-01290).

  Dac EGAC50000000346

• Target sequencing of 53 synovial sarcoma patients

  This dataset contains 138 .bam files sequenced with Illumina NovaSeq 6000. The files with the variant calling performed to the sequencing data, as well as the clinical data (phenotype) extracted during the sample extraction.

  Dataset EGAD50000000743

• The landscape of LAM disease

  Tumor biopsies from LAM disease were retrospectively analyzed by multiple techniques to characterize the alterations in patients ,to elucidate the landscape of genetic/genomic alterations.

  Study EGAS00001003534

• Non-invasive whole genome sequencing of a human fetus

  The overall purpose of this study was to demonstrate the feasibility of producing haplotype-phased whole genome sequence data from a fetus using free fetal DNA isolated from maternal plasma collected during the first half of gestation.

  Study phs000500

• 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

• Uterine leiomyoma: DNA methylation, chromatin activity and gene expression

  In this study, we observed the effects of different uterine leiomyoma driver mutations to tumor DNA methylation, chromatin activity and gene expression, to form a comprehensive view on the epigenetic consequences of the mutations.

  Study EGAS00001004499

• Comprehensive genetic analysis of Epstein-Barr virus-associated hematological malignancy

  Comprehensive genetic analyses including whole-exome sequencing, targeted sequencing, and whole-genome sequencing of the human genome and the Epstein-Barr virus (EBV) genome were performed to reveal the molecular pathogenesis of EBV-associated hematological malignancy.

  Study EGAS00001003159

• cfDNA and CDX/PDX methylation profiling in SCLC

  We profiled the whole genome methylome of SCLC preclinical models and cfDNA samples. We assessed the sensitivity of cfDNA methylation profiling in detecting SCLC, especially at earlier stage of disease and the ability in discriminate among different SCLC molecular subtypes.

  Study EGAS00001005739

• Fragmentomics profiling and quantification of plasma Epstein-Barr virus DNA enhance prediction of future nasopharyngeal carcinoma.

  This dataset included human plasma EBV DNA target-capture sequencing data. The capture probes were designed to cover the entire EBV genome and selected human autosomal regions. After enrichment, the products were sequenced on the NextSeq500 System (Illumina) and aligned to the EBV genome (AJ507799.2) and the human genome (hg19) in BAM format. A total of 558 cases were analyzed, including seven subjects who developed NPC in the second-round screening, 431 non-NPC subjects with first-round transiently positive EBV, and 120 non-NPC subjects with first-round persistently positive EBV.

  Dataset EGAD50000001449

• Whole-exome ultra-high throughput sequencing in brain samples of suicide victims who had suffered from major depressive disorder and control subjects who had died from other causes

  Whole exome NGS data of 21 sucide victims and 23 control patients sequenced on Illumina HiSeq 2000 platform using the Agilent SureSelect Human All Exon + UTRs V5 target enrichment kit. The dataset contains the paired-end unfiltered FASTQ files, the GRCh37 (b37) aligned BAM files mapped by the BWA MEM algorithm, and the variant files in VCF 4.1 format called with the GATK HaploType caller (version 3.3).

  Dataset EGAD00001004184

• The multifaceted genomic history of Ashaninka from Amazonian Peru

  Genome-wide profiles of Ashaninkas from Peruvian Amazonia reveal two genetic subgroups. Ashaninka ancestors derived from a south-north migration from southeastern South America. The Ashaninka1 subgroup testifies to an Arawakan-Caribbean genetic link in the Early Ceramic Age. The Ashaninka2 subgroup had recent interactions with Andean and Pacific Indigenous populations.

  Study EGAS00001006958

• 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

• CLL_cancer_Sample_Sequencing

  Genomic libraries (500 bps) will be generated from total genomic DNA derived from CLL cancer samples and subjected to total of eight lanes of 37 bp, paired end sequencing on the llumina GA. Paired reads will be mapped to build 37 of the human reference genome to facilitate the generation of genome wide copy number information, and the identification of novel rearranged cancer genes and gene fusions.

  Study EGAS00001000011