Welcome to PhenoVar!
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
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.