Mapping genetic variations to three-dimensional protein structures to enhance variant interpretation: a proposed framework

The translation of personal genomics to precision medicine depends on the accurate interpretation of the multitude of genetic variants observed for each individual. However, even when genetic variants are predicted to modify a protein, their functional implications may be unclear. Many diseases are...

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Detalles Bibliográficos
Autores principales: Glusman, Gustavo, Rose, Peter W., Prlić, Andreas, Dougherty, Jennifer, Duarte, José M., Hoffman, Andrew S., Barton, Geoffrey J., Bendixen, Emøke, Bergquist, Timothy, Bock, Christian, Brunk, Elizabeth, Buljan, Marija, Burley, Stephen K., Cai, Binghuang, Carter, Hannah, Gao, JianJiong, Godzik, Adam, Heuer, Michael, Hicks, Michael, Hrabe, Thomas, Karchin, Rachel, Leman, Julia Koehler, Lane, Lydie, Masica, David L., Mooney, Sean D., Moult, John, Omenn, Gilbert S., Pearl, Frances, Pejaver, Vikas, Reynolds, Sheila M., Rokem, Ariel, Schwede, Torsten, Song, Sicheng, Tilgner, Hagen, Valasatava, Yana, Zhang, Yang, Deutsch, Eric W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Opinion
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5735928/
https://www.ncbi.nlm.nih.gov/pubmed/29254494
http://dx.doi.org/10.1186/s13073-017-0509-y

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