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Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
- 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.
- Subjects :
- Multidisciplinary
Genome, Human
Science
DNA Mutational Analysis
Genome Aggregation Database Production Team
Genetic Variation
General Physics and Astronomy
Genomics
General Chemistry
Computational biology
Biology
Genome
General Biochemistry, Genetics and Molecular Biology
Haplotypes
Genome Aggregation Database Consortium
Databases, Genetic
Mutation
Humans
CpG Islands
Exome
Author Correction
Exome sequencing
Subjects
Details
- Language :
- English
- ISSN :
- 20411723
- Volume :
- 12
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Nature Communications
- Accession number :
- edsair.doi.dedup.....07b72c7158484ff178e91cd851893e89