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Chunk #47 — Methods — Study-Specific Information: HABC Study — Genotyping and imputation

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Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
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Genomic DNA was extracted from buffy coat collected using PUREGENE DNA Purification Kit during the baseline exam. Genotyping was performed by the Center for Inherited Disease Research (CIDR) using the Illumina Human1M-Duo BeadChip system. Samples were excluded from the dataset for the reasons of sample failure, genotypic sex mismatch, and first-degree relative of an included individual based on genotype data. Genotyping was successful for 1,151,215 SNPs in 2,802 unrelated individuals (1663 Caucasians and 1139 African Americans). Imputation was done for the autosomes using the MACH software version 1.0.16. SNPs with minor allele frequency ≥1%, call rate ≥97% and HWE p≥10-6 were used for imputation. HapMap II phased haplotypes were used as reference panels. For EAs, genotypes were available on 914,263 high quality SNPs for imputation based on the HapMap CEPH reference panel (release 22, build 36). A total of 2,543,887 in EAs are available for analysis.