Welcome to PhenoVar!

PhenoVar is a genomic diagnostic aid for known human genetic disorders, as listed in the Online Mendelian Inheritance in Man. It is using both the patient's phenotype and exome sequencing data to predict a patient's diagnosis. You must create an account and agree to the terms of use to be able to use PhenoVar. Complete instructions on how to use the software will be provided upon registration.

Current web version: 2.0. Last update: December 3, 2014. Exome data must be in VCF file format. Annotation has to be performed with SnpEff (version 3.2a).

OMIM version: December 3rd, 2014 - HPO version: October 2014

For more information about PhenoVar, please click here to access the related open source publication. To collaborate with us, contact me

If Phenovar is used, please cite: Trakadis YJ, Buote C, Therriault JF, Jacques PÉ, Larochelle H, Lévesque S. PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes. BMC Med Genomics. 2014 May 12;7(1):22. doi:10.1186/1755-8794-7-22. PubMed PMID: 24884844; PubMed Central PMCID: PMC4030287.