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Chunk #13 — Methods and Materials — Genotypes

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Exome Chip Meta-analysis Fine Maps Causal Variants and Elucidates the Genetic Architecture of Rare Coding Variants in Smoking and Alcohol Use.
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Fourteen of the seventeen studies were genotyped with the Illumina HumanExome BeadChip, which contains ~250,000 low-frequency nonsynonymous variants, variants from the GWAS catalog, and a small number of variants selected for other purposes. Two studies were genotyped on the Illumina Human Core Exome, which includes an additional ~250,000 tag SNPs. The remaining study, the UK Biobank, was imputed using Haplotype Reference Consortium panel(31, 42), as well as the reference panel by UK 10K and 1000 Genomes Project. An integrated callset was released by the UK Biobank team(42). Our UK Biobank genetic association analyses were conducted based on the integrated callset with additional quality control.