Misannotation of multiple-nucleotide variants risks misdiagnosis [version 2; peer review: 2 approved]
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...
Main Authors: | Matthew N. Wakeling, Thomas W. Laver, Kevin Colclough, Andrew Parish, Sian Ellard, Emma L. Baple |
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Format: | Article |
Language: | English |
Published: |
Wellcome
2020-01-01
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Series: | Wellcome Open Research |
Online Access: | https://wellcomeopenresearch.org/articles/4-145/v2 |
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