Severus detects somatic structural variation and complex rearrangements in cancer genomes using long-read sequencing.
1/5 보강
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.
APA
Keskus AG, Bryant A, et al. (2026). Severus detects somatic structural variation and complex rearrangements in cancer genomes using long-read sequencing.. Nature biotechnology, 44(2), 247-257. https://doi.org/10.1038/s41587-025-02618-8
MLA
Keskus AG, et al.. "Severus detects somatic structural variation and complex rearrangements in cancer genomes using long-read sequencing.." Nature biotechnology, vol. 44, no. 2, 2026, pp. 247-257.
PMID
40185952 ↗
Abstract 한글 요약
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 (harmonic mean of the precision and recall). We also illustrate that compared to long-read methods, short-read sequencing systematically misses certain classes of somatic SVs, such as insertions or clustered rearrangements. We apply Severus to several clinical cases of pediatric leukemia/lymphoma, revealing clinically relevant cryptic rearrangements missed by standard genomic panels.
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