Whole-exome imputation within UK Biobank powers rare coding variant association and fine-mapping analyses.

Abstract excerpt

Exome association studies to date have generally been underpowered to systematically evaluate the phenotypic impact of very rare coding variants. We leveraged extensive haplotype sharing between 49,960 exome-sequenced UK Biobank participants and the remainder of the cohort (total n ≈ 500,000) to impute exome-wide variants with accuracy R2 > 0.5 down to minor allele frequency (MAF) ~0.00005. Association and...

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• Share to Biological Specimen Banks
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• Share to Exome Sequencing