Benchmarking of variant calling software for whole-exome sequencing using gold standard datasets.

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Title: Benchmarking of variant calling software for whole-exome sequencing using gold standard datasets.
Authors: Wong M; Division of Cellular and Molecular Research, Humphrey Oei Institute of Cancer Research, National Cancer Centre Singapore, 30 Hospital Boulevard, Singapore, 168583, Singapore., Liew B; Division of Cellular and Molecular Research, Humphrey Oei Institute of Cancer Research, National Cancer Centre Singapore, 30 Hospital Boulevard, Singapore, 168583, Singapore., Hum M; Division of Cellular and Molecular Research, Humphrey Oei Institute of Cancer Research, National Cancer Centre Singapore, 30 Hospital Boulevard, Singapore, 168583, Singapore., Lee NY; Division of Cellular and Molecular Research, Humphrey Oei Institute of Cancer Research, National Cancer Centre Singapore, 30 Hospital Boulevard, Singapore, 168583, Singapore., Lee ASG; Division of Cellular and Molecular Research, Humphrey Oei Institute of Cancer Research, National Cancer Centre Singapore, 30 Hospital Boulevard, Singapore, 168583, Singapore. dmslsg@nccs.com.sg.; SingHealth Duke-NUS Oncology Academic Clinical Programme (ONCO ACP), Duke-NUS Medical School, 8 College Road, Singapore, 169857, Singapore. dmslsg@nccs.com.sg.; Department of Physiology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, 117593, Singapore. dmslsg@nccs.com.sg.
Source: Scientific reports [Sci Rep] 2025 Apr 21; Vol. 15 (1), pp. 13697. Date of Electronic Publication: 2025 Apr 21.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:2045-2322
DOI:10.1038/s41598-025-97047-7