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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Detalles Bibliográficos
Publicado en:Wellcome Open Res
Autores principales: Wakeling, Matthew N., Laver, Thomas W., Colclough, Kevin, Parish, Andrew, Ellard, Sian, Baple, Emma L.
Formato: Artigo
Lenguaje:Inglês
Publicado: F1000 Research Limited 2020
Materias:
Research Article
Acceso en línea: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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