Article

Misannotation of multiple-nucleotide variants risks misdiagnosis

2020-01-09

Abstract excerpt

Multiple Nucleotide Variants (MNVs) are miscalled by the most widely utilised next generation sequencing analysis (NGS) pipelines, presenting the potential for missing diagnoses. These variants, which should be treated as a single insertion-deletion mutation event, are commonly called as separate single nucleotide variants. This can result in misannotation, incorrect amino acid predictions and potentially false po...

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Literature Corpus work: 98facf3f-52e0-5b6b-9003-fe46e5b88b7d
DOI: 10.12688/wellcomeopenres.15420.2

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