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

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

Abstract 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 dise...

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Bibliographic Details
Main Authors: Gustavo Glusman, Peter W. Rose, Andreas Prlić, Jennifer Dougherty, José M. Duarte, Andrew S. Hoffman, Geoffrey J. Barton, Emøke Bendixen, Timothy Bergquist, Christian Bock, Elizabeth Brunk, Marija Buljan, Stephen K. Burley, Binghuang Cai, Hannah Carter, JianJiong Gao, Adam Godzik, Michael Heuer, Michael Hicks, Thomas Hrabe, Rachel Karchin, Julia Koehler Leman, Lydie Lane, David L. Masica, Sean D. Mooney, John Moult, Gilbert S. Omenn, Frances Pearl, Vikas Pejaver, Sheila M. Reynolds, Ariel Rokem, Torsten Schwede, Sicheng Song, Hagen Tilgner, Yana Valasatava, Yang Zhang, Eric W. Deutsch
Format: Article
Language:English
Published: BMC 2017-12-01
Series:Genome Medicine
Online Access:http://link.springer.com/article/10.1186/s13073-017-0509-y

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http://link.springer.com/article/10.1186/s13073-017-0509-y

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