Article

Comprehensive detection of genetic and epigenetic alterations in cancer using long reads with TumorLens

2026-03-19

Abstract excerpt

Accurately resolving the full spectrum of somatic alterations remains a major barrier in cancer genomics. Current short-read sequencing methods often prioritize SNVs and copy-number changes while overlooking SVs, haplotype-specific events, and epigenetic dysregulation. To bridge this gap, we present TumorLens, the first unified long-read framework that jointly detects SNVs, indels, SVs, large CNVs, loss-of-heteroz...

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Literature Corpus work: e2ceb3d2-2d4e-51fc-a6ca-d26744ed6027
DOI: 10.64898/2026.03.18.26348569

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