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URL: http://weatherby.genetics.utah.edu/cgi-bin/Phevor/PhevorWeb.html
Proper Citation: Phevor (RRID:SCR_002273)
Description: Tool that integrates phenotype, gene function, and disease information with personal genomic data for improved power to identify disease-causing alleles. It works by combining knowledge resident in multiple biomedical ontologies with the outputs of variant prioritization tools. It does so using an algorithm that propagates information across and between ontologies. This process enables Phevor to accurately reprioritize potentially damaging alleles identified by variant prioritization tools in light of gene function, disease, and phenotype knowledge. Phevor is especially useful for single exome and family trio-based diagnostic analyses, the most commonly occurring clinical scenarios, and ones for which existing personal-genomes diagnostic tools are most inaccurate and underpowered. Phevor not only improves diagnostic accuracy for individuals presenting with established disease phenotypes, but also for those with previously undescribed and atypical disease presentations. Importantly, Phevor is not limited to known diseases, or known disease-causing alleles.
Abbreviations: Phevor
Synonyms: Phenotype Driven Variant Ontological Re-Ranking Tool
Resource Type: service resource, analysis service resource, production service resource, data analysis service
Defining Citation: PMID:24702956
Keywords: genome interpretation, variant prioritization, disease gene prioritization, phenotype, gene function, disease, genomic, disease-causing allele, gene, function, allele
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