Article

Improving long-read somatic structural variant calling with pangenome and de novo personal genome assembly

2025-10-28

Abstract excerpt

Accurate detection of mosaic and somatic structural variants (SVs) provides early diagnostic and therapeutic evidence for cancers. While long-read whole-genome sequencing leads to more accurate SV detection than short read sequencing, existing long-read SV callers only look at alignment against a single reference genome and are susceptible to systematic false discovery caused by germline differences between the in...

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Literature Corpus work: ec826c34-dd8b-5c96-91c6-72fa64530069
DOI: 10.1101/2025.10.28.685154

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