ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
Clinical validity of phenotype-driven analysis software PhenoVar as a diagnostic aid for clinical geneticists in the interpretation of whole-exome sequencing data.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed, 16 citations in OpenAlex.
- Hepatic Phenotype in NBAS-Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 Patients.Liver international : official journal of the International Association for the Study of the Liver · 2025Observational
- Best practices for the interpretation and reporting of clinical whole genome sequencing.NPJ genomic medicine · 2022Review
- Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases.Briefings in bioinformatics · 2022Article
- Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity.Scientific reports · 2021Article
- The History of Gene Hunting in Hereditary Spinocerebellar Degeneration: Lessons From the Past and Future Perspectives.Frontiers in genetics · 2021Review
- Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.Clinical genetics · 2020Article
- Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits.Human molecular genetics · 2020Article
- Molecular diagnosis of muscular diseases in outpatient clinics: A Canadian perspective.Neurology. Genetics · 2020Article
- Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Development and user evaluation of a rare disease gene prioritization workflow based on cognitive ergonomics.Journal of the American Medical Informatics Association : JAMIA · 2019Article
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9 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
purposeWe sought to determine the diagnostic yield of whole-exome sequencing (WES) combined with phenotype-driven analysis of variants in patients with suspected genetic disorders.
methodsWES 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 phenotype-driven analysis software PhenoVar (http://phenovar.med.usherbrooke.ca/) to analyze WES variants. The prioritized list of potential diagnoses returned was reviewed by the clinical geneticist, who selected candidate variants to be confirmed by segregation analysis. Conventional analysis of the individual variants was performed in parallel. The resulting candidate variants were subsequently reviewed by the same geneticist, to identify any additional potential diagnoses.
resultsA molecular diagnosis was identified in 35% of the patients using the conventional analysis, and 17 of these 18 diagnoses were independently identified using PhenoVar. The only diagnosis initially missed by PhenoVar was rescued when the optional "minimal phenotypic cutoff" filter was omitted. PhenoVar reduced by half the number of potential diagnoses per patient compared with the conventional analysis.
conclusionPhenotype-driven software prioritizes WES variants, provides an efficient diagnostic aid to clinical geneticists and laboratories, and should be incorporated in clinical practice.
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