Article

Diploid donor-specific assembly enhances somatic structural variant detection in cancer genomes

2025-10-29

Abstract excerpt

Somatic structural variants (SVs) play a crucial role in tumor development and evolution, yet their identification remains challenging, partly due to limitations in current reference genomes. We present a systematic evaluation of diploid donor-specific assemblies (DSAs)—generated based on hybrid long-read sequencing data—as the reference genome for detecting somatic SVs. We analyzed six tumor-normal cell line pair...

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Literature Corpus work: 47565820-d467-5d3d-8b82-64f8749bd46a
DOI: 10.1101/2025.10.28.685155

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