SVhet: towards accurate detection of germline heterozygous deletions using short reads

SVhet provides an accurate and efficient solution for evaluating heterozygous deletions derived from short read sequencing data. SVhet can be used as a standalone tool or in conjunction with other filtering tools such as duphold. Importantly, it does not require additional variant sets, and can operate with minimal compute. Altogether, SVhet adds to the current effort to achieve accurate structural variant detection using short reads.

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Publication Details

Journal
BMC Bioinformatics
Published
2025-12-07
DOI
https://doi.org/10.1186/s12859-025-06342-7
Primary Topic
Genomics and Phylogenetic Studies
Type
article
Field-Weighted Citation Impact
0.00
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article

SVhet: towards accurate detection of germline heterozygous deletions using short reads

H.S. Chan, Wanling Yang, Chun Hing She
BMC Bioinformatics
Genomics and Phylogenetic Studies
article

SVhet: towards accurate detection of germline heterozygous deletions using short reads

H.S. Chan, Wanling Yang, Chun Hing She
article en

Abstract

SVhet provides an accurate and efficient solution for evaluating heterozygous deletions derived from short read sequencing data. SVhet can be used as a standalone tool or in conjunction with other filtering tools such as duphold. Importantly, it does not require additional variant sets, and can operate with minimal compute. Altogether, SVhet adds to the current effort to achieve accurate structural variant detection using short reads.

BMC BioinformaticsVol. 27(1)
Chinese University of Hong Kong (HK), University of Hong Kong (HK)
Openalex Percentile: Top 65%
Genomics and Phylogenetic Studies
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