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...

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Detalles Bibliográficos
Autores principales: Kim, Samuel S., Dey, Kushal K., Weissbrod, Omer, Márquez-Luna, Carla, Gazal, Steven, Price, Alkes L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
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

Internet

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

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