Severus detects somatic structural variation and complex rearrangements in cancer genomes using long-read sequencing.

ABSTRACT: For the detection of somatic structural variation (SV) in cancer genomes, long-read sequencing is advantageous over short-read sequencing with respect to mappability and variant phasing. However, most current long-read SV detection methods are not developed for the analysis of tumor genomes characterized by complex rearrangements and heterogeneity. Here, we present Severus, a breakpoint graph-based algorithm for somatic SV calling from long-read cancer sequencing. Severus works with matching normal samples, supports unbalanced cancer karyotypes, can characterize complex multibreak SV patterns and produces haplotype-specific calls. On a comprehensive multitechnology cell line panel, Severus consistently outperforms other long-read and short-read methods in terms of SV detection F1 score (ha

SUBMITTER: Keskus AG 

PROVIDER: S-EPMC12483193 | biostudies-literature | 2026 Feb

REPOSITORIES: biostudies-literature