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Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families.
Singleton, Marc V; Guthery, Stephen L; Voelkerding, Karl V; Chen, Karin; Kennedy, Brett; Margraf, Rebecca L; Durtschi, Jacob; Eilbeck, Karen; Reese, Martin G; Jorde, Lynn B; Huff, Chad D; Yandell, Mark.
Affiliation
  • Singleton MV; Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.
  • Guthery SL; Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, University of Utah, Salt Lake City, UT 84112, USA.
  • Voelkerding KV; Department of Pathology, University of Utah, Salt Lake City, UT 84112, USA; ARUP Institute for Clinical and Experimental Pathology, 500 Chipeta Way, Salt Lake City, UT 84108, USA.
  • Chen K; Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics, University of Utah, Salt Lake City, UT 84112, USA.
  • Kennedy B; Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.
  • Margraf RL; ARUP Institute for Clinical and Experimental Pathology, 500 Chipeta Way, Salt Lake City, UT 84108, USA.
  • Durtschi J; ARUP Institute for Clinical and Experimental Pathology, 500 Chipeta Way, Salt Lake City, UT 84108, USA.
  • Eilbeck K; Utah Science, Technology, and Research Center for Genetic Discovery, University of Utah, Salt Lake City, UT 84112, USA; Department of Biomedical Informatics, University of Utah, Salt Lake City, UT 84112, USA.
  • Reese MG; Omicia Inc., 1625 Clay Street, Oakland, CA 94612, USA.
  • Jorde LB; Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT 84112, USA; Utah Science, Technology, and Research Center for Genetic Discovery, University of Utah, Salt Lake City, UT 84112, USA.
  • Huff CD; Department of Epidemiology, The University of Texas MD Anderson Cancer Center, P.O. Box 301439, Houston, TX 77230, USA.
  • Yandell M; Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT 84112, USA; Utah Science, Technology, and Research Center for Genetic Discovery, University of Utah, Salt Lake City, UT 84112, USA. Electronic address: myandell@genetics.utah.e
Am J Hum Genet ; 94(4): 599-610, 2014 Apr 03.
Article in En | MEDLINE | ID: mdl-24702956
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Full text: 1 Database: MEDLINE Main subject: Genetic Predisposition to Disease / Databases, Genetic / Alleles Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: Am J Hum Genet Year: 2014 Type: Article Affiliation country: United States
Fulltext
Add to My VHL
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Full text: 1 Database: MEDLINE Main subject: Genetic Predisposition to Disease / Databases, Genetic / Alleles Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: Am J Hum Genet Year: 2014 Type: Article Affiliation country: United States