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PhenIX

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Description

PhenIX, Phenotypic Interpretation of eXomes, is a pipeline for ranking (prioritizing) candidate genes in exomes or NGS panels with comprehensive coverage of human Mendelian disease genes. It ranks genes based on predicted variant pathogenicity as well as phenotypic similarity of diseases associated with the genes harboring these variants to the phenotypic profile of the individual being investigated, based on analysis powered by the Human Phenotype Ontology (HPO).

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Associated keywords

Exome Genes Humans Disease

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