Article

Cost-effective hybrid long- and short-read sequencing enables accurate somatic structural variant detection

2026-02-17

Abstract excerpt

Somatic structural variant (SSV) calling typically requires matched normal data. Incorporating relatively inexpensive short-read sequencing not only provides essential germline information but can also replace a substantial portion of long-read sequencing, thereby enabling more cost-effective somatic SV detection. Here, we present SomaSV, a hybrid sequencing framework that integrates 30× tumor long-read data with...

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Literature Corpus work: 855f96b8-93cc-5edb-b254-a8c3167fe93e
DOI: 10.64898/2026.02.16.706063

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