Mapping Genetic Variations to Three-Dimensional Protein Structures to Enhance Variant Interpretation: a Proposed Framework
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 Genome Medicine（2017）
Key words
Three-dimensional Protein Structure,Application Programming Interface (APIs),Variant Effect Prediction,Common APIs,Regulatory Tools
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