Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

Multi-nucleotide variants (MNVs), defined as two or more nearby variants existing on the same haplotype in an individual, are a clinically and biologically important class of genetic variation. However, existing tools typically do not accurately classify MNVs, and understanding of their mutational o...

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Опубликовано в: :Nat Commun
Главные авторы: Wang, Qingbo, Pierce-Hoffman, Emma, Cummings, Beryl B., Alföldi, Jessica, Francioli, Laurent C., Gauthier, Laura D., Hill, Andrew J., O’Donnell-Luria, Anne H., Karczewski, Konrad J., MacArthur, Daniel G.
Формат: Artigo
Язык:Inglês
Опубликовано: Nature Publishing Group UK 2020
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC7253413/
https://ncbi.nlm.nih.gov/pubmed/32461613
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-019-12438-5
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