Article
Improved tumor-only variant calling and mutation burden estimation with VarNet-T.
Nature communications - 9 Apr 2026
Krishnamachari Kiran, Bui Nguyen Huu An, Kadioglu Sinem, Ong Tze Jet, Jacobsen Skanderup Anders
Abstract excerpt
Somatic variant calling algorithms typically detect mutations in cancer genomes by comparing sequence data from a tumor sample against a matched normal sample. However, matched normal samples are often unavailable in clinical diagnostics or retrospective analyses of archival tumor samples in biobanks, compromising variant calling accuracy due to the difficulty in distinguishing somatic mutations from germline...
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