Article

Mis-annotated multi nucleotide variants in public cancer genomics datasets can lead to inaccurate mutation calls with significant implications

2020-06-06

Abstract excerpt

<h4>Background</h4> 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 (SNVs). As a result, multiple adjacent SNVs are called individually instead of as a multi-nucleotide variant (MNV). The problem with this level of granularity is that the...

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Literature Corpus work: 25e412a6-9ed0-57c9-8bc9-06380c62ad4a
DOI: 10.1101/2020.06.05.136549

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