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Article

Efficient identification of trait-associated loss-of-function variants in the UK Biobank cohort by exome-sequencing based genotype imputation.

Genetic epidemiology - 1 Mar 2023

Yu Wen-Yuan, Yan Shan-Shan, Zhang Shu-Han, Ni Jing-Jing, Bin-Li, Pei Yu-Fang, Zhang Lei

Abstract excerpt

The large-scale open access whole-exome sequencing (WES) data of the UK Biobank ~200,000 participants is accelerating a new wave of genetic association studies aiming to identify rare and functional loss-of-function (LoF) variants associated with complex traits and diseases. We proposed to merge the WES genotypes and the genome-wide genotyping (GWAS) genotypes of 167,000 UKB homogeneous European participants into...

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PMID: 36490288
DOI: 10.1002/gepi.22511

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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