Misannotation of multiple-nucleotide variants risks misdiagnosis

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 si...

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Опубликовано в: :Wellcome Open Res
Главные авторы: Wakeling, Matthew N., Laver, Thomas W., Colclough, Kevin, Parish, Andrew, Ellard, Sian, Baple, Emma L.
Формат: Artigo
Язык:Inglês
Опубликовано: F1000 Research Limited 2020
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Research Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC6957021/
https://ncbi.nlm.nih.gov/pubmed/31976378
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12688/wellcomeopenres.15420.2
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