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dc.contributor.authorColclough, Kevin
dc.contributor.authorParish, Andrew
dc.contributor.authorEllard, Sian
dc.contributor.authorBaple, Emma L
dc.identifier.citationWakeling MN [et al]. Misannotation of multiple-nucleotide variants risks misdiagnosis [version 2; peer review: 2 approved]. Wellcome Open Res 2020, 4:145en_US
dc.description.abstractMultiple 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 positive and false negative diagnostic results. Using simulated data and re-analysis of sequencing data from a diagnostic targeted gene panel, we demonstrate that the widely adopted pipeline, GATK best practices, results in miscalling of MNVs and that alternative tools can call these variants correctly. The adoption of calling methods that annotate MNVs correctly would present a solution for individual laboratories, however GATK best practices are the basis for important public resources such as the gnomAD database. We suggest integrating a solution into these guidelines would be the optimal approach.en_US
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen_US
dc.titleMisannotation of multiple-nucleotide variants risks misdiagnosisen_US
dc.typeJournal Articleen_US
dc.identifier.journalWellcome Open Researchen_US

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