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Article

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 : official journal of the American College of Medical Genetics - 1 Sept 2018

Thuriot Fanny, Buote Caroline, Gravel Elaine, Chénier Sébastien, Désilets Valérie, Maranda Bruno, Waters Paula J, Jacques Pierre-Etienne, Lévesque Sébastien

Abstract excerpt

PURPOSE: 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. METHODS: WES was performed on a cohort of 51 patients presenting dysmorphisms with or without neurodevelopmental disorders of undetermined etiology. For each patient, a clinical geneticist reviewed the phenotypes and used the...

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PMID: 29388948
DOI: 10.1038/gim.2017.239

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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