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Article

Using off-target data from whole-exome sequencing to improve genotyping accuracy, association analysis and polygenic risk prediction.

Briefings in bioinformatics - 20 May 2021

Dou Jinzhuang, Wu Degang, Ding Lin, Wang Kai, Jiang Minghui, Chai Xiaoran, Reilly Dermot F, Tai E Shyong, Liu Jianjun, Sim Xueling, Cheng Shanshan, Wang Chaolong

Abstract excerpt

Whole-exome sequencing (WES) has been widely used to study the role of protein-coding variants in genetic diseases. Non-coding regions, typically covered by sparse off-target data, are often discarded by conventional WES analyses. Here, we develop a genotype calling pipeline named WEScall to analyse both target and off-target data. We leverage linkage disequilibrium shared within study samples and from an...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32591784
DOI: 10.1093/bib/bbaa084

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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