ArticleCurrent protocols in human genetics2019
Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics.
Article in Current protocols in human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed.
- Systematic reanalysis of next-generation sequencing data in 101 neuromuscular disorder families enhances diagnostic yield, reveals intronic variants, and identifies a novel disease gene.Journal of neurology · 2026Article
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- Application of knowledge graphs in rare disease research.Frontiers in public health · 2026Review
- Artificial intelligence-assisted clinical exome sequencing: Insights and outcomes from 822 pediatric diagnoses.Genetics in medicine open · 2026Article
- Five-year outcomes of next-generation sequencing implementation at a Brazilian public health system reference centre for rare diseases.Frontiers in genetics · 2026Article
- BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.American journal of human genetics · 2025Article
- Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics.American journal of medical genetics. Part A · 2025Review
- Improving automated deep phenotyping through large language models using retrieval-augmented generation.Genome medicine · 2025Article
- Human Phenotype Ontology Annotations for Rare Congenital Conditions: Application to Arthrogryposis Multiplex Congenita.American journal of medical genetics. Part A · 2025Article
- Rapid Whole-Genome Sequencing in Critically Ill Infants and Children with Suspected, Undiagnosed Genetic Diseases: Evolution to a First-Tier Clinical Laboratory Test in the Era of Precision Medicine.Children (Basel, Switzerland) · 2025Review
- Pheno-Ranker: a toolkit for comparison of phenotypic data stored in GA4GH standards and beyond.BMC bioinformatics · 2024Article
- A Copernican revolution of multigenic analysis: A retrospective study on clinical exome sequencing in unclear genetic disorders.Computational and structural biotechnology journal · 2024Article
- Online Mendelian Inheritance in Animals (OMIA): a genetic resource for vertebrate animals.Mammalian genome : official journal of the International Mammalian Genome Society · 2024Review
- Talking about diseases; developing a model of patient and public-prioritised disease phenotypes.NPJ digital medicine · 2024Article
- MSeqDR Quick-Mitome (QM): Combining Phenotype-Guided Variant Interpretation and Machine Learning Classifiers to Aid Primary Mitochondrial Disease Genetic Diagnosis.Current protocols · 2024Article
- Linking rare and common disease vocabularies by mapping between the human phenotype ontology and phecodes.JAMIA open · 2023Article
- Diffuse alveolar hemorrhage in children with interstitial lung disease: Determine etiologies!Pediatric pulmonology · 2023Article
- GA4GH Phenopackets: A Practical Introduction.Advanced genetics (Hoboken, N.J.) · 2023Article
- IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders.HGG advances · 2023Article
- Deep phenotyping and whole-exome sequencing improved the diagnostic yield for nuclear pedigrees with neurodevelopmental disorders.Molecular genetics & genomic medicine · 2022Article
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16 authors.
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Abstract
The Human Phenotype Ontology (HPO) is a standardized set of phenotypic terms that are organized in a hierarchical fashion. It is a widely used resource for capturing human disease phenotypes for computational analysis to support differential diagnostics. The HPO is frequently used to create a set of terms that accurately describe the observed clinical abnormalities of an individual being evaluated for suspected rare genetic disease. This profile is compared with computational disease profiles in the HPO database with the aim of identifying genetic diseases with comparable phenotypic profiles. The computational analysis can be coupled with the analysis of whole-exome or whole-genome sequencing data through applications such as Exomiser. This article explains how to choose an optimal set of HPO terms for these cases and enter them with software, such as PhenoTips and PatientArchive, and demonstrates how to use Phenomizer and Exomiser to generate a computational differential diagnosis. © 2019 by John Wiley & Sons, Inc.
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