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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Detaylı Bibliyografya
Yayımlandı:Wellcome Open Res
Asıl Yazarlar: Wakeling, Matthew N., Laver, Thomas W., Colclough, Kevin, Parish, Andrew, Ellard, Sian, Baple, Emma L.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: F1000 Research Limited 2020
Konular:
Research Article
Online Erişim: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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