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Article

Comparison of variant callers using 60 532 multi-ancestry whole genome sequences.

Briefings in bioinformatics - 1 Mar 2026

Zhou Hufeng, Li Zilin, Shyr Derek, Li Xihao, Yang Haoyu, Dey Rounak, Tang Yushi, Maier Robert, Boerwinkle Eric, Buyske Steve, Daly Mark, Felsenfeld Adam, Gibbs Richard A, Gupta Namrata, Hall Ira M, Matise Tara, Metcalf Ginger A, Smith Albert, Reeves Catherine, Sofia Heidi J, Stitziel Nathan O, Zody Michael C, Neale Benjamin, Lin Xihong

Abstract excerpt

Whole genome sequencing (WGS) studies play a pivotal role in studying the genetic underpinnings of human diseases and traits. High quality and reproducible variant calling is the cornerstone for the success of downstream analyses, including WGS association studies and polygenic risk prediction. This paper compares the data quality, performance, and concordance of two widely used WGS variant callers, the Genome...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41894165
DOI: 10.1093/bib/bbag130
PMCID: PMC13023369

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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