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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253413/
https://www.ncbi.nlm.nih.gov/pubmed/32461613
http://dx.doi.org/10.1038/s41467-019-12438-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253413/
https://www.ncbi.nlm.nih.gov/pubmed/32461613
http://dx.doi.org/10.1038/s41467-019-12438-5

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