Phevor Combines Multiple Biomedical Ontologies for Accurate Identification of Disease-Causing Alleles in Single Individuals and Small Nuclear Families

The American Journal of Human Genetics - Tập 94 - Trang 599-610 - 2014
Marc V. Singleton1, Stephen L. Guthery2, Karl V. Voelkerding3,4, Karin Chen5, Brett Kennedy1, Rebecca L. Margraf4, Jacob Durtschi4, Karen Eilbeck6,7, Martin G. Reese8, Lynn B. Jorde1,6, Chad D. Huff9, Mark Yandell1,6
1Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT 84112, USA
2Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, University of Utah, Salt Lake City, UT 84112, USA
3Department of Pathology, University of Utah, Salt Lake City, UT 84112, USA
4ARUP Institute for Clinical and Experimental Pathology, 500 Chipeta Way, Salt Lake City, UT 84108, USA
5Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics, University of Utah, Salt Lake City, UT 84112, USA
6Utah Science, Technology, and Research Center for Genetic Discovery, University of Utah, Salt Lake City, UT 84112, USA
7Department of Biomedical Informatics, University of Utah, Salt Lake City, UT 84112, USA
8Omicia Inc., 1625 Clay Street, Oakland, CA 94612, USA
9Department of Epidemiology, The University of Texas MD Anderson Cancer Center, P.O. Box 301439, Houston, TX 77230, USA

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