Classifying germline and somatic structural variants in tumor-only contexts using GaTSV.

STAR protocols
Authors
Keywords
Abstract

Distinguishing somatic structural variants (SVs) from germline SVs in the absence of matched normal samples has significant value in elucidating disease-driving processes in cancer. Here, we present a protocol for classifying germline SVs in tumor-only contexts using a support vector machine (SVM)-based algorithm. We describe steps for preparing input data and identifying SVs from whole-genome sequencing (WGS) of tumor samples using the SV caller SvABA. We then detail classification procedures via our germline and tumor structural variant classifier (GaTSV). For complete details on the use and execution of this protocol, please refer to Chukwu et al..

Year of Publication
2026
Journal
STAR protocols
Volume
7
Issue
2
Pages
104528
Date Published
04/2026
ISSN
2666-1667
DOI
10.1016/j.xpro.2026.104528
PubMed ID
42065967
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