ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Novel phenotype-disease matching tool for rare genetic diseases.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- The European Health Data Space and biobanking in Europe: synergies, tensions and the future governance of data-driven health research.Frontiers in genetics · 2026Review
- Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patients.NPJ genomic medicine · 2025Article
- PhenoDP: leveraging deep learning for phenotype-based case reporting, disease ranking, and symptom recommendation.Genome medicine · 2025Article
- A phenotype-based AI pipeline outperforms human experts in differentially diagnosing rare diseases using EHRs.NPJ digital medicine · 2025Article
- Pheno-Ranker: a toolkit for comparison of phenotypic data stored in GA4GH standards and beyond.BMC bioinformatics · 2024Article
- Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies.BMC medical informatics and decision making · 2024Article
- Performance and clinical utility of a new supervised machine-learning pipeline in detecting rare ciliopathy patients based on deep phenotyping from electronic health records and semantic similarity.Orphanet journal of rare diseases · 2024Article
- Advances in the development of PubCaseFinder, including the new application programming interface and matching algorithm.Human mutation · 2022Article
- Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.Journal of clinical medicine · 2022Article
- Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.Genes · 2021Article
- Evaluating, Filtering and Clustering Genetic Disease Cohorts Based on Human Phenotype Ontology Data with Cohort Analyzer.Journal of personalized medicine · 2021Article
- The role of phenotype-based search approaches using public online databases in diagnostics of Mendelian disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Diagnosis support systems for rare diseases: a scoping review.Orphanet journal of rare diseases · 2020Article
Corrections and comments
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Authors and funding
6 authors.
Funding
Abstract
purposeTo improve the accuracy of matching rare genetic diseases based on patient's phenotypes.
methodsWe introduce new methods to prioritize diagnosis of genetic diseases based on integrated semantic similarity (method 1) and ontological overlap (method 2) between the phenotypes expressed by a patient and phenotypes annotated to known diseases.
resultsWe evaluated the performance of our methods by two sets of simulated data and one set of patient's data derived from electronic health records. We demonstrated that the two methods achieved significantly improved performance compared with previous methods in correctly prioritizing candidate diseases in all of the three sets. Our methods are freely available as a web application ( https://gddp. RESEARCH: cchmc.org/ ) to aid diagnosis of genetic diseases.
conclusionOur methods can capture the diagnostic information embedded in the phenotype ontology, consider all phenotypes exhibited by a patient, and are more robust than the existing methods when phenotypes are incorrectly or imprecisely specified. These methods can assist the diagnosis of rare genetic diseases and help the interpretation of the results of DNA tests.
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