Phevor2 - Phenotype Driven Variant Ontological Re-ranking Tool

Phevor2

Phevor2 integrates phenotype, gene function, and disease information with personal genomic data for improved power to identify disease-causing alleles. Phevor2 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 Phevor2 to accurately reprioritize potentially damaging alleles identified by variant prioritization tools in light of gene function, disease, and phenotype knowledge. Phevor2 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. Importantly, Phevor2 is not limited to known diseases, or known disease-causing alleles. Phevor2 can also use latent information in ontologies to discover genes and disease causing-alleles not previously associated with disease.

Publications

Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families.
Singleton MV Guthery SL Voelkerding KV Chen K Kennedy B Margraf RL Durtschi J Eilbeck K Reese MG Jorde LB Huff CD Yandell M
Am J Hum Genet. 2014 Apr 3;94(4):599-610.

Press

Phevor2 Web Service

Access the Phevor2 Web Service to run an analysis.

Access the Phevor1 Web Service NOTE: The Phevor1 Web Service is deprecated and will be discontinued shortly. We encourage you to use the Phevor2 Web Service above.