0 Bedömningar

ID

45714

Beskrivning

Principal Investigator: Eric Boerwinkle, PhD, Human Genetics Center, University of Texas Health Science Center at Houston, Houston, TX, USA MeSH: Cardiovascular Diseases,Thromboembolism,Venous Thromboembolism,Arrhythmias, Cardiac,Atrial Fibrillation https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001211 Participants from the Atherosclerosis Risk in Communities (ARIC) Study, a large population-based longitudinal cohort study, have been included in this Project and whole genome sequencing will be performed to contribute to analyses of early-onset atrial fibrillation and venous thromboembolism. Additional phenotype and genotype data are available for these individuals on dbGaP and can be accessed through the parent ARIC Cohort accession (phs000280). The National Heart, Lung and Blood Institute (NHLBI) Trans-Omics for Precision Medicine (TOPMed) program is designed to generate scientific resources to enhance understanding of fundamental biological processes that underlie heart, lung, blood and sleep disorders (HLBS). It is part of a broader Precision Medicine Initiative, which aims to provide disease treatments that are tailored to an individual's unique genes and environment. TOPMed will contribute to this initiative through the integration of whole genome sequencing (WGS) and other -omics (e.g., metabolic profiles, protein and RNA expression patterns) data with molecular, behavioral, imaging, environmental, and clinical data. In doing so, this program seeks to uncover factors that increase or decrease the risk of disease, identify subtypes of disease, and develop more targeted and personalized treatments. The Whole Genome Sequencing (WGS) Project is part of NHLBI's TOPMed program and serves as an initial step for the larger initiative.

Länk

dbGaP-study=phs001211

Nyckelord

  1. 2023-05-17 2023-05-17 - Chiara Middel
Rättsinnehavare

Eric Boerwinkle, PhD, Human Genetics Center, University of Texas Health Science Center at Houston, Houston, TX, USA

Uppladdad den

17 maj 2023

DOI

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Licens

Creative Commons BY 4.0

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    dbGaP phs001211 NHLBI TOPMed - NHGRI CCDG: Atherosclerosis Risk in Communities (ARIC)

    This subject consent data table contains subject IDs, consent group information, and subject aliases.

    pht005754
    Beskrivning

    pht005754

    Alias
    UMLS CUI [1,1]
    C3846158 (Other Coding)
    LOINC
    LA4728-7
    De-identified Subject ID
    Beskrivning

    SUBJECT_ID

    Datatyp

    string

    Alias
    UMLS CUI [1,1]
    C4684638 (De-identified Information)
    UMLS CUI [1,2]
    C2348585 (Clinical Trial Subject Unique Identifier)
    Consent group
    Beskrivning

    CONSENT

    Datatyp

    text

    Alias
    UMLS CUI [1,1]
    C0021430 (Informed Consent)
    UMLS CUI [1,2]
    C0441833 (Groups)
    SNOMED
    246261001
    Repository name for dbGaP study also containing this individual
    Beskrivning

    SUBJECT_SOURCE

    Datatyp

    string

    Alias
    UMLS CUI [1,1]
    C3847505 (Repository)
    LOINC
    LP182360-0
    UMLS CUI [1,2]
    C2348560 (Study Name)
    UMLS CUI [1,3]
    C0332256 (Containing (qualifier))
    SNOMED
    42504009
    UMLS CUI [1,4]
    C0030705 (Patients)
    SNOMED
    116154003
    Subject ID used in the SUBJECT_SOURCE repository
    Beskrivning

    SOURCE_SUBJECT_ID

    Datatyp

    string

    Alias
    UMLS CUI [1,1]
    C2348585 (Clinical Trial Subject Unique Identifier)
    UMLS CUI [1,2]
    C3847505 (Repository)
    LOINC
    LP182360-0
    UMLS CUI [1,3]
    C0449416 (Source)
    SNOMED
    260753009
    LOINC
    LP21212-3

    Similar models

    This subject consent data table contains subject IDs, consent group information, and subject aliases.

    Name
    Typ
    Description | Question | Decode (Coded Value)
    Datatyp
    Alias
    Item Group
    pht005754
    C3846158 (UMLS CUI [1,1])
    SUBJECT_ID
    Item
    De-identified Subject ID
    string
    C4684638 (UMLS CUI [1,1])
    C2348585 (UMLS CUI [1,2])
    Item
    Consent group
    text
    C0021430 (UMLS CUI [1,1])
    C0441833 (UMLS CUI [1,2])
    Code List
    Consent group
    CL Item
    Health/Medical/Biomedical (IRB) (HMB-IRB) (1)
    CL Item
    Disease-Specific (Cardiovascular Disease, IRB) (DS-CVD-IRB) (2)
    SUBJECT_SOURCE
    Item
    Repository name for dbGaP study also containing this individual
    string
    C3847505 (UMLS CUI [1,1])
    C2348560 (UMLS CUI [1,2])
    C0332256 (UMLS CUI [1,3])
    C0030705 (UMLS CUI [1,4])
    SOURCE_SUBJECT_ID
    Item
    Subject ID used in the SUBJECT_SOURCE repository
    string
    C2348585 (UMLS CUI [1,1])
    C3847505 (UMLS CUI [1,2])
    C0449416 (UMLS CUI [1,3])

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