Comprehensive assessment of whole-genome sequencing-based variant calling pipelines in monozygotic twins.

ABSTRACT: Whole-genome sequencing (WGS) has emerged as a cornerstone technology in precision medicine, genetic diagnostics, and forensic identification. Compared to traditional capillary electrophoresis, WGS captures the entire genomic landscape and thus support high-resolution individual identification and even the differentiation of monozygotic (MZ) twins with nearly identical DNA contents. The minute genetic variation between MZ twins offer a rigorous paradigm for assessing the accuracy and sensitivity of different variant calling algorithms. Therefore, we benchmarked eight state-of-the-art variant calling pipelines using MZ twin genomes sequenced on the Illumina NovaSeq 6000 platform at 30× and 60× coverage. The precision, robustness, efficiency, and concordance of these pipelines were systemati

SUBMITTER: Tan C 

PROVIDER: S-EPMC12684714 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature