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Article

SDrecall: a sensitive approach for variant detection in segmental duplications.

Genome biology - 12 Jan 2026

Yang Xing Tian, She Chun Hing, Zhang CaiCai, Leung Daniel, Yang Jing, Chan Koon-Wing, Duque Jaime S Rosa, Lau Yu Lung, Yang Wanling

Abstract excerpt

Variant calling in segmental duplications is challenging for short-read sequencing because of ambiguous read origins. We present SDrecall, a method for sensitive variant detection in these regions. Upon constructing a network of homologous sequences, SDrecall realigns reads to each segmental duplication from its homologous counterparts. Realignments are phased and assembled into haplotypes via graph-based...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 41526966
DOI: 10.1186/s13059-025-03928-5
PMCID: PMC12888113

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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