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Chunk #37 — Materials and Methods — Imputation to 1000 Genomes Project

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A systematic mapping approach of 16q12.2/FTO and BMI in more than 20,000 African Americans narrows in on the underlying functional variation: results from the Population Architecture using Genomics and Epidemiology (PAGE) study.
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Mb on chromosome 16 of the 1000 genomes reference panel using minimac [55]. To evaluate the quality of each imputed SNP we calculated Rsq. We excluded imputed SNPs with Rsq<0.9 for SNPs with allele frequency <0.5%, Rsq<0.8 for SNPs with allele frequency >0.5–1%, Rsq<0.7 for SNPs with allele frequency >1–3%, Rsq<0.6 for SNPs with allele frequency >3–5%, and Rsq<0.5 for SNPs with allele frequency >5%. Given the large reference panel this resulted in high imputation quality [51]. To calculate pairwise correlation between variants we used the 1000 Genomes Project data, specifically we used 61 African Americans from the South-west (ASW) and 65 European Americans (Utah residents with Northern and Western European ancestry from the CEPH collection, CEU).