about
The Human Phenotype Ontology: Semantic Unification of Common and Rare DiseaseThe Human Phenotype Ontology in 2017Modelling expertise at different levels of granularity using semantic similarity measures in the context of collaborative knowledge-curation platformsThe Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across speciesGetting ready for the Human Phenome Project: the 2012 forum of the Human Variome ProjectToward knowledge support for analysis and interpretation of complex traitsA review of argumentation for the Social Semantic WebPhenoMiner: from text to a database of phenotypes associated with OMIM diseases.Use of model organism and disease databases to support matchmaking for human disease gene discovery.Supervised segmentation of phenotype descriptions for the human skeletal phenome using hybrid methods.Decision support methods for finding phenotype--disorder associations in the bone dysplasia domain.Mining skeletal phenotype descriptions from scientific literatureRecognizing scientific artifacts in biomedical literature.Generation of silver standard concept annotations from biomedical texts with special relevance to phenotypes.Using typed dependencies to study and recognise conceptualisation zones in biomedical literatureAutomatic concept recognition using the human phenotype ontology reference and test suite corpora.Assessing the impact of case sensitivity and term information gain on biomedical concept recognition.Concept selection for phenotypes and diseases using learn to rankSpecial issue on bio-ontologies and phenotypes.A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.The digital revolution in phenotyping.Semantic interestingness measures for discovering association rules in the skeletal dysplasia domain.Phenotyping: targeting genotype's rich cousin for diagnosis.Thematic issue of the Second combined Bio-ontologies and Phenotypes Workshop.Capturing domain knowledge from multiple sources: the rare bone disorders use case.Decomposing phenotype descriptions for the human skeletal phenomeInferring characteristic phenotypes via class association rule mining in the bone dysplasia domain.Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.Matchmaker Exchange.Harmonising phenomics information for a better interoperability in the rare disease field.Plain-language medical vocabulary for precision diagnosis.State of the art and open challenges in community-driven knowledge curationThe Monarch Initiative: Insights across species reveal human disease mechanismsUsing silver and semi-gold standard corpora to compare open named entity recognisersNavigating the phenotype frontier: The Monarch InitiativeBuilding interpretable models for polypharmacy prediction in older chronic patients based on drug prescription recordsFrom raw publications to Linked DataLinking Semantic Desktop Data to the Web of DataCORAAL—Dive into publications, bathe in the knowledgeBridging the Gap between Linked Data and the Semantic Desktop
P50
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P50
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Tudor Groza
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Tudor Groza
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P106
P21
P31
P569
2000-01-01T00:00:00Z