13382 results for ""60+mice"+"6+weeks"+diet+study+2014+2017+DOI"

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• The study provides comprehensive access to the set of EGA studies which may be useful as controls.

  The subjects studies in these datasets were selected due to being healthy control individuals or otherwise provide well characterised phenotype or exclude certain disease phenotype categories such that they may be useful as control population, such as to derive allele frequencies from a known reference population.

  Study EGAS00001000646

• Transcriptome sequencing of hepatocellular carcinoma biopsies (proteogenomic study)

  We performed a proteogenomic analysis of hepatocellular carcinomas (HCCs) across clinical stages and etiologies to define the deregulated pathways and heterogeneity among HCCs. We identified pathways that are differentially regulated on the genomic, transcriptomic, proteomic and phosphoproteomic levels. Integrative clustering identified HCC subgroups that show distinct regulation of biological processes, metabolic reprogramming and kinase activation.

  Study EGAS00001005074

• Lothian Birth Cohort 1921 whole genome sequencing study

  297 members of the Lothian Birth Cohort 1921 (LBC1921) were sequenced using the Illumina HiSeq X platform. The LBC1921 are a relatively healthy cohort of 550 individuals who underwent cognitive and medical testing at a mean age of 79.1 (SD=0.6) years. They have since undergone four further waves of testing, approximately three years apart.

  Study EGAS00001003818

• Lothian Birth Cohort 1936 whole genome sequencing study

  1075 members of the Lothian Birth Cohort 1936 (LBC1936) were sequenced using the Illumina HiSeq X platform. The LBC1936 are a relatively healthy cohort of 1091 individuals who underwent cognitive and medical testing at a mean age of 69.5 (SD=0.8) years. They have since undergone four further waves of testing, approximately three years apart.

  Study EGAS00001003819

• Genomic and epigenomic study of Japanese renal cell carcinoma including WGS, RNA-seq, ATAC-seq, and methyl-seq

  We performed whole-genomic and transcriptomic sequencing of more than 100 Japanese renal cell carcinoma (RCC) cases, including clear cell RCC, papillary RCC, chromophobe RCC, and TFE3-translocated RCC. In addition, we conducted epigenome sequencing analyses: the assay for transposase-accessible chromatin sequencing (ATAC-seq) and enzymatic methyl sequencing.

  Study EGAS00001006919

• Targeted_sequencing_of_blood_DNA_from_Human_twins (2019-05-31)

  The goals of this study is to investigate the prevalence and heritability of age-related clonal haemopoeisis (ARCH) in healthy elderly individuals.We will use a bespoke bait set to pull down DNA regions of interest in whole blood samples combined with HiSeq at a deep level . By correlating findings from each individual to their respective twin we hope to elucidate whether heritable traits influence the development of ARCH. a. 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/ . This dataset contains all the data available for this study on 2019-05-31.

  Dataset EGAD00001005055

• Polymorphisms in the Mitochondrial Genome associated with Bullous Pemphigoid in Germans

  This study is the first to interrogate the whole mtDNA in BP patients and controls and to implicate multiple novel mtDNA variants in disease susceptibility. Whole mtDNA of German BP patients (n=180) and age- and sex-matched healthy controls (n=188) were sequenced using next generation sequencing (NGS) technology, followed by the replication study using Sanger sequencing of an additional independent BP (n=89) and control cohort (n=104). While the BP and control groups showed comparable mitochondrial haplogroup distributions, the haplogroup T exhibited a tendency of higher frequency in BP patients suffering from neurodegenerative diseases (ND) compared to BP patients without ND (p= 0.1448, Fisher’s exact test)

  Dataset EGAD00001005379

• H3Africa AWI-GEN Phase 1 Phenotype

  The phenotypic data for ~12500 samples of the AWI-Gen Phase 1 Population cross-sectional study of older adults (mostly between 40 and 60 years), men and women. Six study sites in four sub-Saharan African counties including Ghana, Burkina Faso, Kenya and South Africa. Some groups are missing data for specific variables. Data includes questionnaire data (demography, health history, family health history, behaviour and infection data); anthropometry; and laboratory assays on blood and urine.

  Dataset EGAD00001006425

• MutWP5: CRUK Mutographs of Cancer: Lung: PD43291_Novaseq (Exome) (2021-02-02)

  Sequencing of LCM-derived microbiopsies from explanted lung from COPD patient. Goal to assess the mutational burden, spectrum, and clonal dynamics within the tissue. Deep sampling throughout multiple regions of the lung will determine whether there are differences in smoking-related mutaiton burden in different portions of the lung. Whole-genome sequencing will be conducted on samples identified as promising from the initial targeted data. Results from this poriton of the study will be compared to other individuals with smoking-related diseases (COPD, pulmonary fibrosis, lung cancer), and normal, non-smoking lungs. . This dataset contains all the data available for this study on 2021-02-02.

  Dataset EGAD00001006932

• Single-cell omics data for COVID-19 patients

  Single-cell RNA-seq, single-cell ATAC-seq, and genotypes used in the analysis for the study "Altered and allele-specific open chromatin landscape reveal epigenetic and genetic regulators of innate immunity in COVID-19". The RNA-seq and ATAC-seq are raw data in FASTQ format while the genotypes are in the VCF format which was filtered and imputed (more details are available in the main text of the study).

  Dataset EGAD00001009331

• MutWP5: CRUK Mutographs of Cancer: Lung: PD38234 (WG) (2020-02-20)

  Sequencing of LCM-derived microbiopsies from explanted lung from pulmonary fibrosis patient. Goal to assess the mutational burden, spectrum, and clonal dynamics within the tissue. Deep sampling throughout multiple regions of the lung will determine whether there are differences in smoking-related mutation burden in different portions of the lung. Whole-genome sequencing will be conducted on samples identified as promising from the initial targeted data. Results from this portion of the study will be compared to other individuals with smoking-related diseases (COPD, pulmonary fibrosis, lung cancer), and normal, non-smoking lungs. . This dataset contains all the data available for this study on 2020-02-20.

  Dataset EGAD00001005991

• MutWP5: CRUK Mutographs of Cancer: Lung: PD37920 (WG) (2020-02-20)

  Sequencing of LCM-derived microbiopsies from explanted lung from COPD patient. Goal to assess the mutational burden, spectrum, and clonal dynamics within the tissue. Deep sampling throughout multiple regions of the lung will determine whether there are differences in smoking-related mutation burden in different portions of the lung. Whole-genome sequencing will be conducted on samples identified as promising from the initial targeted data. Results from this portion of the study will be compared to other individuals with smoking-related diseases (COPD, pulmonary fibrosis, lung cancer), and normal, non-smoking lungs. . This dataset contains all the data available for this study on 2020-02-20.

  Dataset EGAD00001005990

• McGill Cord Blood Methylome Capture Sequencing Data

  The study includes methylC-capture sequencing (MCC-Seq) on 73 cord blood DNA samples from the result of natural pregnancies (control) and through the assisted reproductive technologies for infertile couples (ART/infertile). Samples were collected as a part of the Quebec-based 3D (Design, Develop, Discover) longitudinal pregnancy cohort study. All the data were generated with 100bp paired-end reads using the Illumina NovaSeq 6000 systems.

  Dataset EGAD00001009495

• MutWP5: CRUK Mutographs of Cancer: Lung: PD43291_Novaseq (WG)

  Sequencing of LCM-derived microbiopsies from explanted lung from COPD patient. Goal to assess the mutational burden, spectrum, and clonal dynamics within the tissue. Deep sampling throughout multiple regions of the lung will determine whether there are differences in smoking-related mutaiton burden in different portions of the lung. Whole-genome sequencing will be conducted on samples identified as promising from the initial targeted data. Results from this poriton of the study will be compared to other individuals with smoking-related diseases (COPD, pulmonary fibrosis, lung cancer), and normal, non-smoking lungs. . This dataset contains all the data available for this study on 2023-03-08.

  Dataset EGAD00001010111

• A Tumour Organoid Biobank for Mapping Cancer Cell Vulnerabilities - TGS

  Targeted gene sequencing data from cancer patient-derived organoids and their matched tumour tissue samples. Part of a study to include genomic and transcriptomic sequencing data, along with CRISPR screening data from cancer patient-derived organoids and matched tumour tissues. Some organoids were developed as part of the Human Cancer Models Initiative (HCMI) in collaboration with Cancer Research UK (CRUK). The study includes organoids derived from colorectal, oesophageal, ovarian, pancreatic, and stomach cancer samples.

  Dataset EGAD00001015468

• MutWP5: CRUK Mutographs of Cancer: Lung: PD38233 (WG) (2021-02-02)

  Sequencing of LCM-derived microbiopsies from explanted lung from COPD patient. Goal to assess the mutational burden, spectrum, and clonal dynamics within the tissue. Deep sampling throughout multiple regions of the lung will determine whether there are differences in smoking-related mutation burden in different portions of the lung. Whole-genome sequencing will be conducted on samples identified as promising from the initial targeted data. Results from this portion of the study will be compared to other individuals with smoking-related diseases (COPD, pulmonary fibrosis, lung cancer), and normal, non-smoking lungs. . This dataset contains all the data available for this study on 2021-02-02.

  Dataset EGAD00001006930

• Tam-Seq of HGSOC samples for fixative comparison study

  Targeted amplicon sequencing of samples as part of the study "Methanol-based fixation is superior to buffered formalin for next-generation sequencing of DNA from clinical cancer samples. The amplicon panel consists of 48 amplicons in TP53, PTEN, EGFR, PIK3CA, KRAS and BRAF genes as described previously [Forshew, STM 2012]. All libraries were pooled and quantify using DNA 1000 kit on Agilent 2100 Bioanalyzer and KAPA SYBR FAST ABI Prism qPCR Kit (KAPA Biosystems) on 7900HT Fast Real-Time PCR System (Applied Biosystems) according to the supplier's recommendations. Reads were aligned using bwa-mem v0.7.12-r1039 to the 1000 genomes version of human genome build GRCh37, retaining duplicate reads.

  Dataset EGAD00001001937

• The Causes of Clonal Blood Cell Disorders Study - SCOR_Custom (2018-04-19)

  We took a bone marrow aspirate and peripheral blood samples from a healthy patient aged around 60, and use flow cytometry to isolate 100 HSCs, 50 MEPs, and 50 GMPs. We grew these up into colonies, then whole genome sequenced each colony. Somatic mutations act as a unique barcode for each clone. We have designed a panel for targeted resequencing of the mutations that we find. We are now looking for these mutations in the peripheral blood, to see the dynamics of how HSCs contribute to the peripheral blood in health. This dataset contains all the data available for this study on 2018-04-19.

  Dataset EGAD00001004087

• NHLBI GO-ESP: Heart Cohorts Exome Sequencing Project (Ischemic Stroke Genetic Study, ISGS)

  The NHLBI "Grand Opportunity" Exome Sequencing Project (GO-ESP), a signature project of the NHLBI Recovery Act investment, was designed to identify genetic variants in coding regions (exons) of the human genome (the "exome") that are associated with heart, lung and blood diseases. These and related diseases that are of high impact to public health and individuals from diverse racial and ethnic groups will be studied. These data may help researchers understand the causes of disease, contributing to better ways to prevent, diagnose, and treat diseases, as well as determine whether to tailor prevention and treatments to specific populations. This could lead to more effective treatments and reduce the likelihood of side effects. GO-ESP is comprised of five collaborative components: 3 cohort consortia - HeartGO, LungGO, and WHISP - and 2 sequencing centers - BroadGO and SeattleGO. The Ischemic Stroke Genetics Study (ISGS) is a study of newly onset cases (~600) with ischemic stroke (a stroke due to sudden interruption of blood flow to a part of the brain) compared with sex- and age-matched non-stroke participants. The study was conducted to determine the genes and their variants that contribute to an individual's risk of developing an ischemic stroke. The coordination of the recruitment and flow of the samples occurred at the Mayo Clinic, Jacksonville, FL, under the direction of James F. Meschia, MD. The University of Virginia (Stephen S. Rich, PhD) served as the analytic site for the genetic data. All GWAS data on ISGS participants have been deposited into dbGaP. As part of the NHLBI Exome Sequencing Project, DNA from a subset of ISGS participants will undergo exome sequencing. For the NHLBI ESP, a subset of 92 individuals with lacunar (small vessel) or atherosclerotic (large vessel) TOAST subtypes were selected from among all ISGS participants, excluding those individuals with TOAST subtypes of stroke of other etiology or of stroke with undetermined etiology. All 92 samples pass initial quality control metrics and 89 samples completed exome sequencing. A total of 75 participants with appropriate consent and variant calls had their genetic and phenotypic data deposited into dbGaP.

  Study phs000546

• Exome-seq data from study of juvenile myelomonocytic leukemia (JMML)

  Whole exome seqeuncing from primary human JMML samples

  Dataset EGAD00001003419

• The Genomic Map of Polad in Open Access

  Part of the population based Cohort of Polish inviduals POPULOUS (bbmri-eric:ID:PL_BLUL:collection:POPULOUS_BLUL)

  Study EGAS50000000094

• tRCC UTSW 2024 Cohort

  This submission contains the WES and RNA-Seq raw data for the study titled 'Comparative Genomics of a Translocation Renal Cell Carcinoma Mouse Model Reveals Molecular Mechanisms of Tumorigenesis.

  Dac EGAC50000000105

• resistance mechanims to targeted therapies from DNA sequencing

  WES of tumor tissue biopsies collected at resistance to molecular targeted agents

  Study EGAS50000000486

• Whole Genome Sequencing of Insulinomas

  Whole Genome Sequencing of Insulinomas and paired blood controls from the same patients.

  Study EGAS50000000321

• Psoriasis PBMCs

  This DAC is for the purpose of controlling access to Psoriasis PBMC scRNA-seq data of the study Spermidine/spermine N1-acetyltransferase controls tissue-specific regulatory T cell function in chronic inflammation

  Dac EGAC50000000470

• Nanopore whole genome sequencing data of HG002

  Data generated from single cell, 10 cells, and bulk samples of HG002.

  Study EGAS50000000552

• Raw RNA sequencing of hepatoblastoma PDX cell line HB-303-LEF

  Raw RNA sequencing of hepatoblastoma PDX cell line HB-303-LEF

  Study EGAS50000000928

• ADARIO / Targeting ADAR1 in Immuno-Oncology

  RNA editing analyses of BRCA-isogenic cell lines and patient-derived xenografts (PDX)

  Study EGAS50000000518

• Japanese population-specific reference panels (BioBank Japan genotype data)

  Develop Japanese population-specific reference panels to improve imputation quality for GWAS

  Study JGAS000738

• Whole Genome sequencing of adult T-cell leukemia/lymphoma

  Whole Genome sequencing of a single adult T-cell leukemia/lymphoma case

  Study EGAS00001001210

• MDS_Sequential_Treatment_Validation

  Validations of variants identified by exome sequencing in sequential samples derived after treatment cycle with AZA.

  Study EGAS00001000703

• V2_Colorectal_panel_test

  Targeted gene screen of cell line tumour samples for testing the new V2 Colorectal gene panel.

  Study EGAS00001001806

• HCA_Immune_UAI_Paediatric_Spatial_Managed_Access

  Comparison of immune populations in adenoid tissue in patients with and without history of otitis media

  Study EGAS00001006471

• Exome sequencing of patients with structural brain malformations

  Exome sequencing of 12 DNA samples obtained from patients with structural brain malformations.

  Study EGAS00001000142

• Exome_NanoSeq__Buccals_

  Exome NanoSeq in buccal swab samples obtained from patients with a wide range of clinical phenotypes.

  Study EGAS00001007316

• _RNAseq___Colorectal_organoids_and_tumoroids

  Transcriptome sequencing of tumour tissue, adjacent normal tissue and derived organoids/tumoroids from colorectal cancer

  Study EGAS00001000985

• Mutational_Analysis_of_Colorectal_PDX_models

  Targeted exome sequencing of patient derived xenografts from primary colorectal tumours and liver metastases.

  Study EGAS00001001171

• Lengthening and shortening of plasma DNA in hepatocellular carcinoma patients

  Lengthening and shortening of plasma DNA in hepatocellular carcinoma patients

  Study EGAS00001001024

• Exploring_the_landscape_of_somatic_mutations_in_normal_tissue___POL___WGS

  Somatic mutations (burdens and signatures) and clonal dynamics in individuals with germline DNA polymerase mutations.

  Study EGAS00001003682

• RNA-seq data from Non Small Cell Lung Cancer (NSCLC) samples

  RNA-seq data from Non Small Cell Lung Cancer (NSCLC) samples

  Study EGAS00001004032

• Genetic and methylation profiles distinguish benign, malignant and spitzoid melanocytic tumors

  Genetic and methylation profiles distinguish benign, malignant and spitzoid melanocytic tumors

  Study EGAS00001006205

• Palbociclib resistance analyses on breast cancer bone metastasis PDX

  Identify mecanisms of metastatic breast cancer resistance to palbociclib by RNAseq analyses.

  Study EGAS00001006428

• Genome-wide characterization of Kuwaiti Arab Population

  All the 620 individuals were genotyped using Illumina HumanOmniExpress arrays for 730,525 SNPs.

  Study EGAS00001005034

• Reference epigenome KNIH005 mRNA-seq data generated from KEP study

  A KNIH005 mRNA-seq paired end data for islet cells

  Dataset EGAD00001002171

• Reference epigenome KNIH001 miRNA-seq data generated from KEP study

  A KNIH001 miRNA-seq single end data for islet cells

  Dataset EGAD00001002760

• Reference epigenome Islet-derived-iPSC02 mRNA-Seq data generated from KEP study

  Islet-derived-iPSC02 mRNA-Seq paired end data

  Dataset EGAD00001007165

• JMS dataset

  Juntendo Muscle Study (JMS) dataset comprises 23 samples of paired-end RNA-Seq sequences in fastq format.

  Dataset EGAD00001008983

• Reference epigenome Pancreas-Islet02 h3k36me3 ChIP-Seq data generated from KEP study

  Pancreas-Islet02 h3k36me3 ChIP-Seq paired end data

  Dataset EGAD00001007195

• Reference epigenome IPS-Fibroblast02 input ChIP-Seq data generated from KEP study

  IPS-Fibroblast02 input ChIP-Seq paired end data

  Dataset EGAD00001007276

• Reference epigenome KNIH003 mRNA-seq data generated from KEP study

  A KNIH003 mRNA-seq paired end data for islet cells

  Dataset EGAD00001002169