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

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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 ( IF 6.6 ) Pub Date : 2018-09-01 , DOI: 10.1038/gim.2017.239
Fanny Thuriot ₁ , Caroline Buote ₁ , Elaine Gravel ₁ , Sébastien Chénier ₁ , Valérie Désilets ₁ , Bruno Maranda ₁ , Paula J Waters ₁ , Pierre-Etienne Jacques _{2,

3} , Sébastien Lévesque ₁

Affiliation

We sought to determine the diagnostic yield of whole-exome sequencing (WES) combined with phenotype-driven analysis of variants in patients with suspected genetic disorders.

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