Article
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
2019-03-10
Abstract excerpt
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 for variant interpretation typically do not accurately classify MNVs, and understanding of their mutational origins remains limited. Here, we systematically survey MNVs in 125,748 whole exomes and 15...
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Identifiers and source
- Literature Corpus work
- b25c8927-9ae4-5cc9-b929-d4ab8d894c62
- DOI
- 10.1101/573378