Welcome to PhenoVar!
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.