ArticleJournal of the American Medical Informatics Association : JAMIA
Utility of gene-specific algorithms for predicting pathogenicity of uncertain gene variants.
Article in Journal of the American Medical Informatics Association : JAMIA. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed.
- Disease- and gene-specific deep learning for pathogenicity prediction of rare missense variants in cancer predisposition genes.BioData mining · 2026Article
- Increasing pathogenic germline variant diagnosis rates in precision medicine: current best practices and future opportunities.Human genomics · 2025Review
- Structural mapping of patient-associated KCNMA1 gene variants.Biophysical journal · 2024Article
- Prediction of pathogenic single amino acid substitutions using molecular fragment descriptors.Bioinformatics (Oxford, England) · 2023Article
- Gene-specific machine learning for pathogenicity prediction of rare BRCA1 and BRCA2 missense variants.Scientific reports · 2023Article
- SAV-Pred: A Freely Available Web Application for the Prediction of Pathogenic Amino Acid Substitutions for Monogenic Hereditary Diseases Studied in Newborn Screening.International journal of molecular sciences · 2023Article
- REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.Scientific reports · 2019Article
- BRCA1- and BRCA2-specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge.Human mutation · 2019Article
- Gene-Specific Variant Classifier (DPYD-Varifier) to Identify Deleterious Alleles of Dihydropyrimidine Dehydrogenase.Clinical pharmacology and therapeutics · 2018Article
- Article
- Challenges of Identifying Clinically Actionable Genetic Variants for Precision Medicine.Journal of healthcare engineering · 2016Review
- Personalized biochemistry and biophysics.Biochemistry · 2015Article
- Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity.Genome medicine · 2015Article
- Recent trends in biomedical informatics: a study based on JAMIA articles.Journal of the American Medical Informatics Association : JAMIA · 2013Article
- A systematic approach to assessing the clinical significance of genetic variants.Clinical genetics · 2013Article
- ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing.The Journal of molecular diagnostics : JMD · 2012Article
- Consensus: a framework for evaluation of uncertain gene variants in laboratory test reporting.Genome medicine · 2012Article
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Authors and funding
6 authors.
Funding
Abstract
The rapid advance of gene sequencing technologies has produced an unprecedented rate of discovery of genome variation in humans. A growing number of authoritative clinical repositories archive gene variants and disease phenotypes, yet there are currently many more gene variants that lack clear annotation or disease association. To date, there has been very limited coverage of gene-specific predictors in the literature. Here the evaluation is presented of "gene-specific" predictor models based on a naïve Bayesian classifier for 20 gene-disease datasets, containing 3986 variants with clinically characterized patient conditions. The utility of gene-specific prediction is then compared with "all-gene" generalized prediction and also with existing popular predictors. Gene-specific computational prediction models derived from clinically curated gene variant disease datasets often outperform established generalized algorithms for novel and uncertain gene variants.
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