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

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...

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Detalhes bibliográficos
Principais autores: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3980410/
https://ncbi.nlm.nih.gov/pubmed/24702956
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.03.010
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