Estimating the selective effects of heterozygous protein-truncating variants from human exome data
Estimating the selective effects of heterozygous protein-truncating variants from human exome data
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New York: Nature Publishing Group US
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Language
English
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New York: Nature Publishing Group US
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Contents
Shamil Sunyaev, David Beier and colleagues report an analysis of the fitness effects of heterozygous protein-truncating variants from the Exome Aggregation Consortium. They find that high heterozygous selection coefficients are enriched in Mendelian disease-associated genes and essential mouse genes, suggesting that this coefficient can be used to...
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Full title
Estimating the selective effects of heterozygous protein-truncating variants from human exome data
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5618255
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5618255
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ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng.3831
