Article
Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families.
American journal of human genetics - 3 Apr 2014
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
Abstract excerpt
Phevor integrates phenotype, gene function, and disease information with personal genomic data for improved power to identify disease-causing alleles. Phevor works by combining knowledge resident in multiple biomedical ontologies with the outputs of variant-prioritization tools. It does so by using an algorithm that propagates information across and between ontologies. This process enables Phevor to accurately...
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