Publication
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency
William P. Bone, Nicole L. Washington, Orion J. Buske, David R. Adams, Joie Davis, David Draper, Elise D. Flynn, Marta Girdea, Rena Godfrey, Gretchen Golas, Catherine Groden, Julius Jacobsen, Sebastian Köhler, Elizabeth M. J. Lee, Amanda E. Links, Thomas C. Markello, Christopher J. Mungall, Michele Nehrebecky, Peter N. Robinson, Murat Sincan, Ariane G. Soldatos, Cynthia J. Tifft, Camilo Toro, Heather Trang, Elise Valkanas, Nicole Vasilevsky, Colleen Wahl, Lynne A. Wolfe, Cornelius F. Boerkoel, Michael Brudno, Melissa A. Haendel, William A. Gahl, Damian Smedley
Genetics in Medicine, November 2015, Nature
DOI: 10.1038/gim.2015.137