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Article

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

Nature communications - 27 May 2020

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

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 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 15,708 whole genomes from...

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Identifiers

PMID: 32461613
DOI: 10.1038/s41467-019-12438-5
PMCID: PMC7253413

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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