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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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| Pubblicato in: | Wellcome Open Res |
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| Autori principali: | , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
F1000 Research Limited
2020
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| Soggetti: | |
| Accesso online: | 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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