A Genomics England haplotype reference panel and imputation of UK Biobank.

ABSTRACT: We built a reference panel with 342 million autosomal variants using 78,195 individuals from the Genomics England (GEL) dataset, achieving a phasing switch error rate of 0.18% for European samples and imputation quality of r² = 0.75 for variants with minor allele frequencies as low as 2 × 10^-4 in white British samples. The GEL-imputed UK Biobank genome-wide association analysis identified 70% of associations found by direct exome sequencing (P < 2.18 × 10^-11), while extending testing of rare variants to the entire genome. Coding variants dominated the rare-variant genome-wide association results, implying less disruptive effects of rare non-coding variants.

SUBMITTER: Shi S 

PROVIDER: S-EPMC11387190 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature