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Chunk #33 — Methods — Genome-wide genotyping array data sets used for evaluation of imputation quality and/or phenotype association analysis — Genetic Epidemiology Research on Aging (GERA)

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Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations.
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The GERA cohort includes over 100,000 adults who are members of the Kaiser Permanente Medical Care Plan, Northern California Region (KPNC) and consented to research on the genetic and environmental factors that affect health and disease, linking together clinical data from electronic health records, survey data on demographic and behavioral factors, and environmental data with genetic data. The GERA cohort was formed by including all self-reported racial and ethnic minority participants with saliva samples (19%); the remaining participants were drawn sequentially and randomly from non-Hispanic White participants (81%). Genotyping was completed as previously described [48] using 4 different custom Affymetrix Axiom arrays with ethnic-specific content to increase genomic coverage. Principal components analysis was used to characterize genetic structure in this multi-ethnic sample, as previously described [49]. Blood cell traits were extracted from medical records. In individuals with multiple measurements, the first visit with complete white blood cell differential (if any) was used for each participant. Otherwise, the first visit was used. In total, 5,783 Hispanic/Latino and 2,246 AA participants with blood cell traits were included in the analysis.