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: Janvuary 25, 2018. Exome data must be in VCF file format. Annotation has to be performed with SnpEff (version 3.2a).

OMIM version: August 18, 2017 - HPO version: June 2017

For more information about PhenoVar, please click here to access the initial open source publication.


Initial publication: 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.

Clinical validation: Thuriot F, Buote C, Gravel E, Chenier S, Desilets V, Maranda B, Waters PJ, Jacques PE, Levesque S. Clinical validity of phenotype-driven analysis software PhenoVar as a diagnostic aid for clinical geneticists in the interpretation of whole-exome sequencing data. Genetics in Medicine. 2018.