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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 by listing potential disorders in order of both severity and likeliness. Predictions are based on multiple annotation databases and algorithms.



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.

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