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Article

Misannotated Multi-Nucleotide Variants in Public Cancer Genomics Datasets Lead to Inaccurate Mutation Calls with Significant Implications.

Cancer research - 15 Jan 2021

Srinivasan Sujaya, Kalinava Natallia, Aldana Rafael, Li Zhipan, van Hagen Sjoerd, Rodenburg Sander Y A, Wind-Rotolo Megan, Qian Xiaozhong, Sasson Ariella S, Tang Hao, Kirov Stefan

Abstract excerpt

Although next-generation sequencing is widely used in cancer to profile tumors and detect variants, most somatic variant callers used in these pipelines identify variants at the lowest possible granularity, single-nucleotide variants (SNV). As a result, multiple adjacent SNVs are called individually instead of as a multi-nucleotide variants (MNV). With this approach, the amino acid change from the individual SNV...

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PMID: 33115802
DOI: 10.1158/0008-5472.CAN-20-2151

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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