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

Qingbo Wang; Emma Pierce-Hoffman; Beryl B. Cummings; Jessica Alföldi; Laurent C. Francioli; Laura D. Gauthier; Andrew J. Hill; Anne H. O’Donnell-Luria; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; Konrad J. Karczewski; Daniel G. MacArthur

doi:10.1038/s41467-019-12438-5

Nature Communications (May 2020)

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

Qingbo Wang,
Emma Pierce-Hoffman,
Beryl B. Cummings,
Jessica Alföldi,
Laurent C. Francioli,
Laura D. Gauthier,
Andrew J. Hill,
Anne H. O’Donnell-Luria,
Genome Aggregation Database Production Team,
Genome Aggregation Database Consortium,
Konrad J. Karczewski,
Daniel G. MacArthur

Affiliations

Qingbo Wang: Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard
Emma Pierce-Hoffman: Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard
Beryl B. Cummings: Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard
Jessica Alföldi: Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard
Laurent C. Francioli: Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard
Laura D. Gauthier: Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard
Andrew J. Hill: Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard
Anne H. O’Donnell-Luria: Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard
Genome Aggregation Database Production Team
Genome Aggregation Database Consortium
Konrad J. Karczewski: Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard
Daniel G. MacArthur: Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard

DOI: https://doi.org/10.1038/s41467-019-12438-5
Journal volume & issue: Vol. 11, no. 1
pp. 1 – 13

Abstract

Read online

Multi-nucleotide variants (MNV) are genetic variants in close proximity of each other on the same haplotype whose functional impact is difficult to predict if they reside in the same codon. Here, Wang et al. use the gnomAD dataset to assemble a catalogue of MNVs and estimate their global mutation rate.

Published in Nature Communications

ISSN: 2041-1723 (Online)
Publisher: Nature Portfolio
Country of publisher: United Kingdom
LCC subjects: Science
Website: https://www.nature.com/ncomms/

About the journal