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Chunk #34 — Methods — Genome-wide genotyping array data sets used for evaluation of imputation quality and/or phenotype association analysis — Jackson Heart Study (JHS)

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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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JHS is a population-based study designed to investigate risk factors for cardiovascular disease in African Americans. JHS recruited 5,306 AA participants age 35–84 from urban and rural areas of the three counties (Hinds, Madison and Rankin) that comprise the Jackson, Mississippi metropolitan area from 2000–2004, including a nested family cohort (≥ 21 years old) and some prior participants from the Atherosclerosis Risk in Communities (ARIC) study [50, 51]. Genotyping was performed using an Affymetrix 6.0 array through NHLBI’s Candidate Gene Association Resource (CARe) consortium [52] in 3,029 individuals, with quality control described previously [53]. Due to the greater JHS sample size in TOPMed freeze 5b (n = 3,082), we extracted SNPs genotyped on Affymetrix 6.0 and which passed CARe consortium quality control in the non-duplicated JHS TOPMed sequenced samples included in the imputation reference panel (821,172 variants which passed TOPMed quality controls used for imputation).