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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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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Public Library of Science
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7384676/ https://www.ncbi.nlm.nih.gov/pubmed/32667917 http://dx.doi.org/10.1371/journal.pgen.1008922 |