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Chunk #15 — Methods — Reasons for Geographic and Racial Differences in Stroke Study (REGARDS)

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Development and validation of a trans-ancestry polygenic risk score for type 2 diabetes in diverse populations.
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performed on 8,916 Black participants using Illumina MEGA arrays. Imputation was conducted using release 2 (r2) of the National Heart Lung and Blood Institute (NHLBI) TOPMed reference panel available through the BioData Catalyst framework. Participants were excluded if they had sex mismatch or genotyping call rate <0.95, or if they were duplicates or an outlier in the principal component analysis (PCA; outside of 6 standard deviations), resulting in 6,745 individuals (Table 1). Imputed variants were inspected for their imputation quality scores (R2) and it was noted that more than 99% of the variants with MAF >1% had an imputation quality >0.6. Given the high quality in the imputed callset for variants with MAF >1%, genotypes with genotypic probability >0.9 were retained.