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Improving the informativeness of Mendelian disease-derived pathogenicity scores for common disease
Despite considerable progress on pathogenicity scores prioritizing variants for Mendelian disease, little is known about the utility of these scores for common disease. Here, we assess the informativeness of Mendelian disease-derived pathogenicity scores for common disease and improve upon existing...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7721881/ https://www.ncbi.nlm.nih.gov/pubmed/33288751 http://dx.doi.org/10.1038/s41467-020-20087-2 |