14666 results for "PLOS+ONE+Pennsylvania+German+ACS+language+code+pdc+open+access+study"

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• Somatic_mutation_and_clonal_evolution_in_the_human_bladder_WGS

  In this study, we aim to characterise the landscape of mutation and clonal selection in the human bladder. The data in this study will be generated by whole-genome sequencing of laser-dissected microbiopsies from the bladder. The samples utilised in this study will include urothelium from transplant donors with no history of bladder cancer and cystectomy specimens from patients with bladder cancer.

  Study EGAS00001002658

• Somatic_mutation_and_clonal_evolution_in_the_human_bladder_WES

  In this study, we aim to characterise the landscape of mutation and clonal selection in the human bladder. The data in this study will be generated by whole-exome sequencing of laser-dissected microbiopsies from the bladder. The samples utilised in this study will include urothelium from transplant donors with no history of bladder cancer and cystectomy specimens from patients with bladder cancer.

  Study EGAS00001002842

• T1DGC GWAS 1958 British Birth Cohort controls

  T1DGC genome-wide case-control association study for Type 1 Diabetes (T1D) using the 1958 British Birth Cohort as controls. The cases for this study are made available from the NCBI dbGAP.

  Study EGAS00000000038

• Whole Exome Sequences from Iberian Roma samples

  Study of high-depth Roma whole exomes to analyse the impact of complex demography on the functional genomic variation. This study also includes genome-wide array data of Iberian Roma individuals

  Study EGAS00001004599

• Cardiovascular Health Study (CHS) Cohort: an NHLBI-funded observational study of risk factors for cardiovascular disease in adults 65 years or older

  The Cardiovascular Health Study (CHS) is a prospective study of risk factors for development and progression of CHD and stroke in people aged 65 years and older. The 5,888 study participants were recruited from four U.S. communities and have undergone extensive clinic examinations for evaluation of markers of subclinical cardiovascular disease. The original cohort, enrolled in 1989-90, totaled 5,201 participants. A supplemental cohort of 687 predominantly African-American participants was enrolled in 1992-93. Clinic examinations were performed at study baseline and at annual visits through 1998-1999, and again in 2005-2006. Examination components included medical and personal history, medication inventory, ECG, blood pressure, anthropometry, assessment of physical and cognitive function, and depression screening. Other components done less frequently included phlebotomy, spirometry, echocardiography, carotid ultrasound, cerebral magnetic resonance imaging, measurement of ankle-brachial index and retinal exam. Participants were contacted by telephone annually between exams to collect information about hospitalizations and potential cardiovascular events. Since 1999, participants have been contacted every six months by phone, primarily to identify cardiovascular events and to assess physical and cognitive health. Standard protocols for the identification and adjudication of events were implemented during follow-up. The adjudicated events are myocardial infarction, angina, heart failure (HF), stroke, transient ischemic attack (TIA), claudication and mortality. The Cardiovascular Health Study Cohort is utilized in the following dbGaP substudies. To view genotypes, analysis, expression data, other molecular data, and derived variables collected in these substudies, please click on the following substudies below or in the "Substudies" section of this top-level study page phs000287 Cardiovascular Health Study (CHS) Cohort: an NHLBI-funded observational study of risk factors for cardiovascular disease in adults 65 years or older. phs000226 STAMPEED: Cardiovascular Health Study (CHS) phs000301 PAGE: CaLiCo: Cardiovascular Health Study (CHS) phs000377 CARe: Candidate Gene Association Resource (CARe) phs000400 GO-ESP: Heart Cohorts Exome Sequencing Project (CHS) phs000667 CHARGE: Cardiovascular Health Study (CHS)

  Study phs000287

• Molecular Epidemiology of Colorectal Cancer (MECC) Metastasis Study: A Germline Variant on Chromosome 4q31.1 Associates with Susceptibility to Developing Colon Cancer Metastasis

  This study compared Ashkenazi Jewish individuals with Stage IV metastatic colon cancer to those with non-metastatic Stage I or II colon cancers. A genome-wide association study, using a 2-stage design, identified a significant association with rs60745952.

  Study phs001045

• Nrf2 transcript alterations

  WGS and RNA-seq data for Nrf2 study

  Study EGAS00001001740

• Maastricht IBS cohort MIBS

  Gut microbiome data of the Maastricht-IBS study

  Study EGAS00001001914

• Kings_Hepatoblastoma_Behjati_RNA_Managed_Access

  A study of the development of liver based tumours.

  Study EGAS00001006876

• Molecular Biomarkers of Obesity and Metformin Response in Endometrial Cancer: Analysis of GOG-0286B

  The primary endpoint for the phase 2 study was progression free survival (PFS), and the primary endpoint for the phase 3 study was overall survival (OS). Data from phase 2 were included in the phase 3 analysis. Tissue was collected from patients with endometrial cancer who participated in the study (NCT02065687). The tissue will be analyzed for genetic data and combined with the clinical data to see if some gene variants are associated with longer PFS or OS, particularly on the metformin arm of the study.

  Study phs002934

• NHLBI TOPMed: Whole Genome Sequencing of Venous Thromboembolism (WGS of VTE)

  This study consists of 338 VTE cases from an inception cohort of Olmsted County, MN residents (OC) with a first lifetime objectively-diagnosed idiopathic VTE during the 40-year study period, 1966-2005. All living study subjects were invited to provide a whole blood sample at the Mayo Clinical Research Unit for leukocyte genomic DNA and plasma collection. For living study subjects who did not provide a blood sample, we retrieved any leftover blood ("waste" blood) from samples collected as part of routine clinical diagnostic testing and used this to extract DNA after obtaining patient consent. For deceased cases, with IRB approval, we extracted DNA from any available stored tissue within the Mayo Tissue Archive. This "tissue" DNA has been successfully genotyped in prior studies. Three trained and experienced study nurse abstractors reviewed the complete medical records in the community of all potential cases. Note: WGS sample IDs for the previous GENEVA study cases (phs000289) are included in this dataset. The phenotypes for the GENEVA study are located under the above phs number.

  Study phs001402

• African Demographic History Study Using Illumina 1M Array Data

  These data were used as part of a study to characterize genomic diversity in Africa, population substructure, and evolutionary history.

  Study phs001780

• African Demographic History Study Based on WGS Data

  These data were used as part of a study to characterize genomic diversity in Africa, population substructure, and evolutionary history.

  Study phs003096

• WTCCC2 Pre-eclampsia Study

  A WTCCC2 project genome-wide association study for pre-eclampsia (PA) in 4375 individuals from Colombia, genotyped on the Affymetrix 6.0 array.

  Study EGAS00001003349

• TEST_STUDY for submitter testing

  This is a test study for the purpose of submitters wishing to test the EGA submission procedure. All objects, such as DAC and datasets, linked to this study can also be considered to be for testing purposes.

  Study EGAS00001000889

• WTCCC case-control study for Multiple Sclerosis

  WTCCC genome-wide case-control association study for Multiple Sclerosis (MS) using the 1958 British Birth Cohort collection as controls.

  Study EGAS00000000022

• WTCCC case-control study for Breast cancer

  WTCCC genome-wide case-control association study for Breast cancer (BC) using the 1958 British Birth Cohort collection as controls.

  Study EGAS00000000024

• WTCCC case-control study for Ankylosing Spondylitis

  WTCCC genome-wide case-control association study for Ankylosing Spondylitis (AS) using the 1958 British Birth Cohort collection as controls.

  Study EGAS00000000018

• Whole_Genome_Sequencing_of_INTERVAL

  Whole genome sequencing of participants from the INTERVAL study.

  Study EGAS00001001355

• Characterizing Advanced Breast Cancer Heterogeneity and Treatment Resistance through Serial Biopsies and Comprehensive Analytics

  This dataset accompanies the manuscript "Characterizing Advanced Breast Cancer Heterogeneity and Treatment Resistance Through Serial Biopsies and Comprehensive Analytics". In this study we discuss the clinical implications and consequences of molecular heterogeneity in a metastatic breast cancer patient identified through serial biopsies, multi-omic analysis, and longitudinal patient monitoring, performed through the precision oncology program, Serial Measurements of Molecular and Architectural Responses to Therapy (SMMART). This case study describes a metastatic breast cancer patient with a highly heterogenous tumor that began as ER positive/HER2 negative on diagnosis, then was found to be ER negative/HER2 positive in a metastatic liver lesion (Study biopsy #1), and finally triple negative (TNBC) in another metastatic liver biopsy (Study biopsy #2). Multi-omic assays included clinical genomic panel sequencing, clinical immunohistochemistry, a clinical protein profiling assay (Intracellular Signaling Protein Profiling), RNA sequencing, and RPPA. Here we provide the expression data from RNAseq and RPPA data on Study biopsy #2 for the patient discussed in this case report. Note: The first liver biopsy did not yield sufficient material for RNAseq or RPPA.Raw RNA FASTQ files from Study biopsy #2 of the liver Gene expression (RNAseq) files from Study biopsy #2Protein expression (RPPA) files (level 2, 3, 4) for Study biopsy #2

  Study phs002321

• Somatic_mutation_and_clonal_evolution_in_the_human_bladder_Novaseq

  In this study, we aim to characterise the landscape of mutation and clonal selection in the human bladder. The data in this study will be generated by whole-genome sequencing of laser-dissected microbiopsies from the bladder. The samples utilised in this study will include urothelium from transplant donors with no history of bladder cancer and cystectomy specimens from patients with bladder cancer.

  Study EGAS00001003433

• Kidney_tumour_DNA_exome

  This is an exome DNA sequencing study of human renal tumours

  Study EGAS00001003616

• Natural Genetic Variation in the Human Genome

  In this study, we used existing whole genome sequencing data from the TOPMed Amish and Jackson Heart Study, as well as the GTEx study, to identify mobile element insertions in the genomes of these individuals.  A total of 1112 TOPMed Amish, 3331 TOPMed Jackson Heart Study, and 698 GTEx individuals were examined.  We used the Mobile Element Locator Tool (MELT) developed previously by our lab, along with a Cloud-based version of MELT (CloudMELT), to discover non-reference mobile element insertions (MEIs) in these genomes.  We discovered Alu, L1, SVA, and HERV-K MEIs and produced genotypes in individual genomes.  Build hg19 bams were used for the TOPMed samples, and build GRCh37 bams were used for the GTEx samples in this study.

  Study phs002463

• Center for Common Disease Genomics (CCDG) - Cardiovascular: BioImage Cohort

  The genetic basis of cardiovascular disease in individuals of non-European ancestry remains largely unknown. Availability of ethnically diverse study populations is essential to fully investigate the underlying causes of disease. The BioImage Study enrolled adults aged 55-80 in a prospective observational study. Subjects had no prior history of cardiovascular disease, but were identified to be at intermediate to high risk for atherosclerotic cardiovascular events (PMID: 25790876). The recruiting target was a cohort with similar demographics to the US population in terms of race and ethnicity. Produced as part of the NHGRI Centers for Common Disease Genomics, this study contains whole genome sequence data and variant calls from 922 African American participants of the BioImage Study.

  Study phs002325

• WTCCC case-control study for Autoimmune Thyroid Disease

  WTCCC genome-wide case-control association study for Autoimmune Thyroid Disease (ATD) using the 1958 British Birth Cohort collection as controls.

  Study EGAS00000000020