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

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 ra...

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Autores principales:	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
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2020
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/053a200a4cea4fb997d382b7e041c377
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spelling	oai:doaj.org-article:053a200a4cea4fb997d382b7e041c3772021-12-02T15:00:12ZLandscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes10.1038/s41467-019-12438-52041-1723https://doaj.org/article/053a200a4cea4fb997d382b7e041c3772020-05-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-12438-5https://doaj.org/toc/2041-1723Multi-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.Qingbo WangEmma Pierce-HoffmanBeryl B. CummingsJessica AlföldiLaurent C. FrancioliLaura D. GauthierAndrew J. HillAnne H. O’Donnell-LuriaGenome Aggregation Database Production TeamGenome Aggregation Database ConsortiumKonrad J. KarczewskiDaniel G. MacArthurNature PortfolioarticleScienceQENNature Communications, Vol 11, Iss 1, Pp 1-13 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q 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 Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
description	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.
format	article
author	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
author_facet	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
author_sort	Qingbo Wang
title	Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
title_short	Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
title_full	Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
title_fullStr	Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
title_full_unstemmed	Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
title_sort	landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
publisher	Nature Portfolio
publishDate	2020
url	https://doaj.org/article/053a200a4cea4fb997d382b7e041c377
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Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

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