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monarch-initiative / monarch-legacy

Monarch web application and API
BSD 3-Clause "New" or "Revised" License
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Update Analyze Exomes page #234

Closed mellybelly closed 10 years ago

mellybelly commented 10 years ago

Add new entry below Exomiser: PhenIX: Phenotypic Interpretation of eXomes, is a pipeline for 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. PhenIX requires a VCF file mapped to hg19/Gchr37, as well as a list of HPO terms representing the phenotype observed in the patient. PhenIX is available here (add link) from Peter Robinson's group at Charité.

here is the link: http://compbio.charite.de/PhenIX/

@pnrobinson @damiansm please check this page for updates you'd like

mellybelly commented 10 years ago

Also here is the exome walker website link: http://compbio.charite.de/ExomeWalker/ (please update that section as well)