ID
45577
Beschreibung
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.
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Versionen (1)
- 24.01.23 24.01.23 - Simon Heim
Rechteinhaber
Steven Hirschfeld, MD, PhD, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA
Hochgeladen am
24. Januar 2023
DOI
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Creative Commons BY 4.0
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dbGaP phs000662 National Children's Study Vanguard Study Formative Research Study (NCS)
This sample attributes table includes body site where sample was extracted, analyte type, tumor status, and genotyping center.
- StudyEvent: SEV1
- Eligibility Criteria
- This data table contains subject IDs, consent information, and affection status.
- 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.
- This subject phenotype table includes sex, self-reported race and ethnicity, and predicted population and super population most similar to the 1000 Genomes Project.
- This sample attributes table includes body site where sample was extracted, analyte type, tumor status, and genotyping center.
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This sample attributes table includes body site where sample was extracted, analyte type, tumor status, and genotyping center.
- StudyEvent: SEV1
- Eligibility Criteria
- This data table contains subject IDs, consent information, and affection status.
- 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.
- This subject phenotype table includes sex, self-reported race and ethnicity, and predicted population and super population most similar to the 1000 Genomes Project.
- This sample attributes table includes body site where sample was extracted, analyte type, tumor status, and genotyping center.
C1299222 (UMLS CUI [1,2])
C1518422 (UMLS CUI [1,2])
C5575037 (UMLS CUI [1,2])
C1285573 (UMLS CUI [1,3])
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