Clinical diagnostics in human genetics with semantic similarity searches in ontologies - Wikidata - awgldk - TriplyDB

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

http://www.wikidata.org/entity/Q24657971

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The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease Improved exome prioritization of disease genes through cross-species phenotype comparison Capturing phenotypes for precision medicine The RIKEN integrated database of mammals Rare disease diagnosis: A review of web search, social media and large-scale data-mining approaches Phenotype-driven strategies for exome prioritization of human Mendelian disease genes.Medical genomics: The intricate path from genetic variant identification to clinical interpretation Disjunctive shared information between ontology concepts: application to Gene Ontology The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data The Human Phenotype Ontology in 2017 Global analysis of the human pathophenotypic similarity gene network merges disease module components The role of ontologies in biological and biomedical research: a functional perspective Toward knowledge support for analysis and interpretation of complex traits Worm Phenotype Ontology: integrating phenotype data within and beyond the C. elegans community.Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine EHR Big Data Deep Phenotyping. Contribution of the IMIA Genomic Medicine Working Group Prioritizing Clinically Relevant Copy Number Variation from Genetic Interactions and Gene Function Data.Fusing literature and full network data improves disease similarity computation.A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.Integrative analysis of genomic, functional and protein interaction data predicts long-range enhancer-target gene interactions PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases Next-generation diagnostics and disease-gene discovery with the Exomiser Strategies for exome and genome sequence data analysis in disease-gene discovery projects.Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology Exact score distribution computation for ontological similarity searches.Ontological phenotype standards for neurogenetics.Querying phenotype-genotype relationships on patient datasets using semantic web technology: the example of Cerebrotendinous xanthomatosis.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 literature Phenomics research on coronary heart disease based on human phenotype ontology.Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.HPOSim: an R package for phenotypic similarity measure and enrichment analysis based on the human phenotype ontology.Automatic concept recognition using the human phenotype ontology reference and test suite corpora.Supporting the annotation of chronic obstructive pulmonary disease (COPD) phenotypes with text mining workflows.Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome PhenUMA: a tool for integrating the biomedical relationships among genes and diseases.OVA: integrating molecular and physical phenotype data from multiple biomedical domain ontologies with variant filtering for enhanced variant prioritization.De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations.How to build personalized multi-omics comorbidity profiles

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P2860

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

http://www.wikidata.org/entity/Q24657971

description

2009 nî lūn-bûn

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2009 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

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2009 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2009年の論文

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2009年論文

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2009年論文

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2009年論文

@zh-hk

2009年論文

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2009年論文

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2009年论文

@wuu

name

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

@ast

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

@en

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

@nl

type

label

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

@ast

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

@en

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

@nl

prefLabel

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

@ast

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

@en

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

@nl

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J.AJHG.2009.09.003

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American Journal of Human Genetics

P1476

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

@en

P2093

Christine Mundlos

http://www.w3.org/2001/XMLSchema#string

Denise Horn

http://www.w3.org/2001/XMLSchema#string

Marcel H Schulz

http://www.w3.org/2001/XMLSchema#string

Sandra Dölken

http://www.w3.org/2001/XMLSchema#string

Sebastian Bauer

http://www.w3.org/2001/XMLSchema#string

P2860

The OBO Foundry: coordinated evolution of ontologies to support biomedical data integration

Gene ontology: tool for the unification of biology

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

Investigating semantic similarity measures across the Gene Ontology: the relationship between sequence and annotation

London Dysmorphology Database, London Neurogenetics Database and Dysmorphology Photo Library on CD-ROM [Version 3] 2001R. M. Winter, M. Baraitser, Oxford University Press, ISBN 019851-780, pound sterling 1595

Aneurysm syndromes caused by mutations in the TGF-beta receptor

Besides precision & recall: exploring alternative approaches to evaluating an automatic indexing tool for MEDLINE.

Gene Ontology term overlap as a measure of gene functional similarity

Analysis of clinical features predicting etiologic yield in the assessment of global developmental delay.

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.

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606413

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10.1016/J.AJHG.2009.09.003

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4

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85

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Sebastian Köhler

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2009-10-01T00:00:00Z

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26866364

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19800049

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2756558

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