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Haplotype-aware segmentation with HapASeg increases accuracy of detecting homolog-specific somatic copy number alterations

Abstract Somatic copy number alterations (sCNAs) drive cancer initiation, progression, resistance, and metastasis. Furthering our understanding of sCNAs requires substantially larger cohorts. Most tumors available for sequencing are preserved with formalin-fixed, paraffin-embedding (FFPE), which cau...

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Huvudupphov: Oliver Priebe, Ron Solan, Conor Messer, Claudia Chu, Julian Hess, Gad Getz
Materialtyp: Artigo
Språk:Inglês
Utgiven: BMC 2026-02-01
Serie:Genome Biology
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Länkar:https://doi.org/10.1186/s13059-026-03971-w
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