ArticleScientific reports2017
Evaluating phenotype-driven approaches for genetic diagnoses from exomes in a clinical setting.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed.
- CardioVar: a machine learning framework for pathogenicity prediction of cardiomyopathy genetic variants.Bioinformatics advances · 2026Article
- NGS Approaches in Clinical Diagnostics: From Workflow to Disease-Specific Applications.International journal of molecular sciences · 2025Review
- A Hypergraph powered approach to Phenotype-driven Gene Prioritization and Rare Disease Prediction.Scientific reports · 2025Article
- Towards a standard benchmark for phenotype-driven variant and gene prioritisation algorithms: PhEval - Phenotypic inference Evaluation framework.BMC bioinformatics · 2025Article
- Evaluating seven bioinformatics platforms for tertiary analysis of genomic data from whole exome sequencing in a pilot group of patients.Advances in laboratory medicine · 2025Article
- Article
- An AI-based approach driven by genotypes and phenotypes to uplift the diagnostic yield of genetic diseases.Human genetics · 2025Article
- The future role of facial image analysis in ACMG classification guidelines.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2023Article
- Integration of multi-omics technologies for molecular diagnosis in ataxia patients.Frontiers in genetics · 2023Article
- Clinical and genotypic analysis in determining dystonia non-motor phenotypic heterogeneity: a UK Biobank study.Journal of neurology · 2022Article
- Predicting genes from phenotypes using human phenotype ontology (HPO) terms.Human genetics · 2022Article
- Early illustrations of the importance of systematic phenotyping.European journal of human genetics : EJHG · 2022Article
- Lessons learned: next-generation sequencing applied to undiagnosed genetic diseases.The Journal of clinical investigation · 2022Review
- Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders.Journal of medical genetics · 2022Article
- Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases.Briefings in bioinformatics · 2022Article
- A pipeline-friendly software tool for genome diagnostics to prioritize genes by matching patient symptoms to literature.Advanced genetics (Hoboken, N.J.) · 2020Article
- PEDIA: prioritization of exome data by image analysis.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.American journal of human genetics · 2019Article
- Comparison of Causative Variant Prioritization Tools Using Next-generation Sequencing Data in Japanese Patients with Mendelian Disorders.Yonago acta medica · 2019Article
- Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach.European journal of human genetics : EJHG · 2019Article
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Authors and funding
6 authors.
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No grant is acknowledged in the PubMed record.
Abstract
Next generation sequencing is transforming clinical medicine and genome research, providing a powerful route to establishing molecular diagnoses for genetic conditions; however, challenges remain given the volume and complexity of genetic variation. A number of methods integrate patient phenotype and genotypic data to prioritise variants as potentially causal. Some methods have a clinical focus while others are more research-oriented. With clinical applications in mind we compare results from alternative methods using 21 exomes for which the disease causal variant has been previously established through traditional clinical evaluation. In this case series we find that the PhenIX program is the most effective, ranking the true causal variant at between 1 and 10 in 85% of these cases. This is a significantly higher proportion than the combined results from five alternative methods tested (p = 0.003). The next best method is Exomiser (hiPHIVE), in which the causal variant is ranked 1-10 in 25% of cases. The widely different targets of these methods (more clinical focus, considering known Mendelian genes, in PhenIX, versus gene discovery in Exomiser) is perhaps not fully appreciated but may impact strongly on their utility for molecular diagnosis using clinical exome data.
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