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

Authors :
Qingbo Wang
Beryl B. Cummings
Genome Aggregation Database Production Team
Jessica Alföldi
Andrew J. Hill
Daniel G. MacArthur
Emma Pierce-Hoffman
Anne H. O’Donnell-Luria
Konrad J. Karczewski
Laurent C. Francioli
Laura D. Gauthier
Source :
Nature Communications, Vol 12, Iss 1, Pp 1-1 (2021), Nature Communications
Publication Year :
2021
Publisher :
Nature Portfolio, 2021.

Abstract

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 the Genome Aggregation Database (gnomAD). We identify 1,792,248 MNVs across the genome with constituent variants falling within 2 bp distance of one another, including 18,756 variants with a novel combined effect on protein sequence. Finally, we estimate the relative impact of known mutational mechanisms - CpG deamination, replication error by polymerase zeta, and polymerase slippage at repeat junctions - on the generation of MNVs. Our results demonstrate the value of haplotype-aware variant annotation, and refine our understanding of genome-wide mutational mechanisms of MNVs.

Details

Language :
English
ISSN :
20411723
Volume :
12
Issue :
1
Database :
OpenAIRE
Journal :
Nature Communications
Accession number :
edsair.doi.dedup.....07b72c7158484ff178e91cd851893e89