about
The Human Phenotype Ontology: Semantic Unification of Common and Rare DiseaseImproved exome prioritization of disease genes through cross-species phenotype comparisonClinical diagnostics in human genetics with semantic similarity searches in ontologiesDisease insights through cross-species phenotype comparisonsThe Human Phenotype Ontology project: linking molecular biology and disease through phenotype dataClinical interpretation of CNVs with cross-species phenotype dataComputational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.Integrative analysis of genomic, functional and protein interaction data predicts long-range enhancer-target gene interactionsNext-generation diagnostics and disease-gene discovery with the ExomiserUse of model organism and disease databases to support matchmaking for human disease gene discovery.Improving ontologies by automatic reasoning and evaluation of logical definitions.Exact score distribution computation for ontological similarity searches.MouseFinder: Candidate disease genes from mouse phenotype data.Deletions of chromosomal regulatory boundaries are associated with congenital disease.Ontological phenotype standards for neurogenetics.Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases.Finding our way through phenotypes.The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.Automatic concept recognition using the human phenotype ontology reference and test suite corpora.Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genomeNavigating the Phenotype Frontier: The Monarch Initiative[Diagnostics in human genetics : Integration of phenotypic and genomic data].Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafishPhenoDigm: analyzing curated annotations to associate animal models with human diseases.Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research.Bayesian ontology querying for accurate and noise-tolerant semantic searches.Walking the interactome for prioritization of candidate disease genes.Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.Harmonising phenomics information for a better interoperability in the rare disease field.Short ultraconserved promoter regions delineate a class of preferentially expressed alternatively spliced transcripts.Plain-language medical vocabulary for precision diagnosis.Improved ontology-based similarity calculations using a study-wise annotation model.A Hierarchical Ensemble Method for DAG-Structured TaxonomiesPrediction of Human Gene - Phenotype Associations by Exploiting the Hierarchical Structure of the Human Phenotype OntologyNeue Wege in der bioinformatischen PhänotypanalyseExact Score Distribution Computation for Similarity Searches in OntologiesPhenotero: Annotate as you writeExpansion of the Human Phenotype Ontology (HPO) knowledge base and resourcesSemantic integration of clinical laboratory tests from electronic health records for deep phenotyping and biomarker discovery
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description
biologist
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biologo
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Sebastian Köhler
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Sebastian Köhler
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Sebastian Köhler
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Sebastian Köhler
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Sebastian Köhler
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type
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Sebastian Köhler
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Sebastian Köhler
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Sebastian Köhler
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Sebastian Köhler
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Sebastian Köhler
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Sebastian Köhler
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Sebastian Köhler
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Sebastian Köhler
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Sebastian Köhler
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Sebastian Köhler
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P108
P1053
A-2029-2012
P1153
23980415100
P1960
fqukiWoAAAAJ
P21
P2456
P31
P3829
P4012
P496
0000-0002-5316-1399