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ID

45216

Description

Principal Investigator: Deborah A. Meyers, PhD, Wake Forest School of Medicine, Winston-Salem, NC, USA MeSH: Asthma,Respiratory Function Tests https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000422 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 exome sequencing asthma project includes 200 African-Americans with asthma from the NHLBI multicenter Severe Asthma Research Program (SARP). SARP participants were recruited at the NHLBI SARP sites with an emphasis on recruiting severe asthmatics (Moore et al., Am J Respir Crit Care Med, 2010. PMID: 19892860). Asthma status was based on both a physician's diagnosis and either bronchodilator reversibility or hyper-responsiveness to methacholine as well as less than 5 pack years of smoking. All subjects were carefully characterized using the standardized SARP protocol which included spirometry (medication withheld), maximum bronchodilator reversibility, hyper-responsiveness to methacholine (not performed in subjects with low baseline FEV1), skin-tests to common allergens, questionnaires on health care utilization and medication use and sputum, lung imaging and bronchoscopy in a subset. In addition GWAS data are available (phs000355, Illumina platform).

Link

dbGaP study = phs000422

Keywords

  1. 31/7/22 31/7/22 - Chiara Middel
  2. 12/10/22 12/10/22 - Adrian Schulz
Copyright Holder

Deborah A. Meyers, PhD, Wake Forest School of Medicine, Winston-Salem, NC, USA

Uploaded on

12 de octubre de 2022

DOI

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License

Creative Commons BY 4.0

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    dbGaP phs000422 NHLBI GO-ESP: Lung Cohorts Exome Sequencing Project (Asthma)

    Subject - Sample Mapping

    pht003224
    Description

    pht003224

    Subject ID
    Description

    SUBJID

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C2348585 (Clinical Trial Subject Unique Identifier)
    Sample ID
    Description

    SAMPID

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C1299222 (Sample identification number)
    SNOMED
    372274003
    Sample Use
    Description

    SAMPLE_USE

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C1524063 (Use of)
    SNOMED
    260676000
    UMLS CUI [1,2]
    C2347026 (Biospecimen)

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    Subject - Sample Mapping

    Name
    Type
    Description | Question | Decode (Coded Value)
    Data type
    Alias
    Item Group
    pht003224
    SUBJID
    Item
    Subject ID
    string
    C2348585 (UMLS CUI [1,1])
    SAMPID
    Item
    Sample ID
    string
    C1299222 (UMLS CUI [1,1])
    Item
    Sample Use
    text
    C1524063 (UMLS CUI [1,1])
    C2347026 (UMLS CUI [1,2])
    Code List
    Sample Use
    CL Item
    Whole exome sequencing data available through SRA (WES_SRA)
    C3640077 (UMLS CUI [1,1])

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