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: | , , , , , |
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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 |