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Please use this identifier to cite or link to this item: http://repositorio.insp.mx:8080/jspui/handle/20.500.12096/8188
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DC FieldValueLanguage
dc.coverage.spatialnacional
dc.creatorWang, Qingbo
dc.date.accessioned2023-05-25T14:21:20Z-
dc.date.available2023-05-25T14:21:20Z-
dc.date.issued2020
dc.identifier.urisicabi.insp.mx:2020-None
dc.identifier.urihttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253413/pdf/41467_2019_Article_12438.pdf
dc.identifier.urihttps://www.doi.org/10.1038/s41467-019-12438-5
dc.identifier.urihttp://repositorio.insp.mx:8080/jspui/handle/20.500.12096/8188-
dc.description.abstractAbstract 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.
dc.formatpdf
dc.languagespa
dc.publisherESPM INSP
dc.rightsinfo:eu-repo/semantics/openAccess
dc.rightshttp://creativecommons.org/licenses/by-nc-nd/4.0
dc.subjectCpG Islands DNA Mutational Analysis Databases, Genetic Exome, Genetic Variation, Genome, Human, Humans Mutation
dc.titleLandscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
dc.typeinfo:eu-repo/semantics/article
dc.subject.ctiinfo:eu-repo/classification/cti/3
dc.creator.orcidorcid/0000-0002-9110-5830;Wang, Qingbo
dc.creator.orcidorcid/0000-0002-3039-8895;Francioli, Laurent
dc.creator.orcidorcid/0000-0003-2419-1086;Gonzalez Villalpando, Cliserio
dc.creator.orcidorcid/0000-0003-2878-4671;Karczewski, Konrad
dc.creator.orcidorcid/0000-0002-5771-2290;MacArthur, Daniel
dc.creator.orcidorcid/0000-0001-6418-9592;O'Donnell-Luria, Anne
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