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...
| Main Authors: | , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2020-05-01
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| Series: | Nature Communications |
| Online Access: | https://doi.org/10.1038/s41467-019-12438-5 |
| _version_ | 1819038978603483136 |
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| 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 |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-21T08:45:54Z |
| format | Article |
| id | doaj.art-053a200a4cea4fb997d382b7e041c377 |
| institution | Directory Open Access Journal |
| issn | 2041-1723 |
| language | English |
| last_indexed | 2024-12-21T08:45:54Z |
| publishDate | 2020-05-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Nature Communications |
| spelling | doaj.art-053a200a4cea4fb997d382b7e041c3772022-12-21T19:09:50ZengNature PortfolioNature Communications2041-17232020-05-0111111310.1038/s41467-019-12438-5Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomesQingbo Wang0Emma Pierce-Hoffman1Beryl B. Cummings2Jessica Alföldi3Laurent C. Francioli4Laura D. Gauthier5Andrew J. Hill6Anne H. O’Donnell-Luria7Genome Aggregation Database Production TeamGenome Aggregation Database ConsortiumKonrad J. Karczewski8Daniel G. MacArthur9Program in Medical and Population Genetics, The Broad Institute of MIT and HarvardProgram in Medical and Population Genetics, The Broad Institute of MIT and HarvardProgram in Medical and Population Genetics, The Broad Institute of MIT and HarvardProgram in Medical and Population Genetics, The Broad Institute of MIT and HarvardProgram in Medical and Population Genetics, The Broad Institute of MIT and HarvardProgram in Medical and Population Genetics, The Broad Institute of MIT and HarvardProgram in Medical and Population Genetics, The Broad Institute of MIT and HarvardProgram in Medical and Population Genetics, The Broad Institute of MIT and HarvardProgram in Medical and Population Genetics, The Broad Institute of MIT and HarvardProgram in Medical and Population Genetics, The Broad Institute of MIT and HarvardMulti-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.https://doi.org/10.1038/s41467-019-12438-5 |
| spellingShingle | 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 Nature Communications |
| title | 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_short | 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 |
| url | https://doi.org/10.1038/s41467-019-12438-5 |
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