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

Abstract Background Accurate structural variant detection from short-read sequencing data remains challenged by false positives, particularly for heterozygous deletions where reduced allelic support and coverage-based detection methods are ambiguous. Existing SV genotyping and filtering approaches s...

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Автори: Chun Hing She, Sophelia Hoi-Shan Chan, Wanling Yang
Формат: Artigo
Мова:Inglês
Опубліковано: BMC 2025-12-01
Серія:BMC Bioinformatics
Предмети:
Structural variations
Germline deletions
Heterozygous deletions
Heterozygous sites
Diploid genomes
Онлайн доступ:https://doi.org/10.1186/s12859-025-06342-7
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