Unified inference of missense variant effects and gene constraints in the human genome.
A challenge in medical genomics is to identify variants and genes associated with severe genetic disorders. Based on the premise that severe, early-onset disorders often result in a reduction of evolutionary fitness, several statistical methods have been developed to predict pathogenic variants or c...
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| Format: | Article |
| Language: | English |
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Public Library of Science (PLoS)
2020-07-01
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| Series: | PLoS Genetics |
| Online Access: | https://doi.org/10.1371/journal.pgen.1008922 |