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ID

45577

Descrizione

Principal Investigator: Steven Hirschfeld, MD, PhD, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA MeSH: https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000662 The National Children's Study (NCS) is a multi-year prospective epidemiological study tasked with identifying a nationally representative sample of 100,000 children and following them from pregnancy through age 21 to study environmental impacts on growth, development, and health. Determination of NCS enrollee ancestry is important for assessing the diversity of study enrollees and for examining the effect of ancestry on various health outcomes. We estimated the genetic ancestry of a convenience sample of 641 parents enrolled at the 7 original NCS Vanguard sites by analyzing 29,972 markers on exome arrays, using the participants of the 1000 Genomes Project (1KG) super populations (e.g. European, East Asian) as reference populations, and compared this to self-reported ethnicity and race. Self-reported ethnicity and race agreed with predicted super population in 98.9% of individuals. NCS individuals identified as Asian by self-report had genetic ancestry of either South Asian or Asian groups, while those reporting as either Hispanic White or Hispanic Other had similar genetic ancestry. Of the 33 individuals who self-reported as Multiracial or Non-Hispanic Other, 11 (33%) matched the South Asian and Asian groups, while these groups were less represented in the other reported categories (27/609, 4.4%). Our data suggest that self-reported ethnicity and race categories have some limitations in accurately capturing this information for Hispanic and South Asian populations. Overall, our data indicate that despite the complexity of the U.S. population, individuals know their ancestral origins and that self-reported ethnicity and race is a reliable indicator of genetic ancestry.

collegamento

dbGaP study = phs000662

Keywords

  1. 24/01/23 24/01/23 - Simon Heim
Titolare del copyright

Steven Hirschfeld, MD, PhD, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA

Caricato su

24 gennaio 2023

DOI

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Licenza

Creative Commons BY 4.0

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    dbGaP phs000662 National Children's Study Vanguard Study Formative Research Study (NCS)

    This data table contains mapping of study subject IDs to sample IDs. Samples are defined as the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample use.

    pht003559
    Descrizione

    pht003559

    Alias
    UMLS CUI [1,1]
    C3846158
    Subject ID
    Descrizione

    SUBJECT_ID

    Tipo di dati

    string

    Alias
    UMLS CUI [1,1]
    C2348585
    Sample ID
    Descrizione

    SAMPLE_ID

    Tipo di dati

    string

    Alias
    UMLS CUI [1,1]
    C1299222
    Sample Use
    Descrizione

    SAMPLE_USE

    Tipo di dati

    text

    Alias
    UMLS CUI [1,1]
    C2347026
    UMLS CUI [1,2]
    C1524063

    Similar models

    This data table contains mapping of study subject IDs to sample IDs. Samples are defined as the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample use.

    Name
    genere
    Description | Question | Decode (Coded Value)
    Tipo di dati
    Alias
    Item Group
    pht003559
    C3846158 (UMLS CUI [1,1])
    SUBJECT_ID
    Item
    Subject ID
    string
    C2348585 (UMLS CUI [1,1])
    SAMPLE_ID
    Item
    Sample ID
    string
    C1299222 (UMLS CUI [1,1])
    Item
    Sample Use
    text
    C2347026 (UMLS CUI [1,1])
    C1524063 (UMLS CUI [1,2])
    Code List
    Sample Use
    CL Item
    SNP genotypes obtained using standard or custom microarrays (SNP_Array)
    C2347026 (UMLS CUI [1,1])
    C0042153 (UMLS CUI [1,2])
    C0752046 (UMLS CUI [1,3])
    C1449575 (UMLS CUI [1,4])

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