PhenoTips: patient phenotyping software for clinical and research use. - Wikidata - awgldk - TriplyDB

PhenoTips: patient phenotyping software for clinical and research use.

PhenoTips: patient phenotyping software for clinical and research use.

http://www.wikidata.org/entity/Q38490526

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Capturing phenotypes for precision medicine Novel bioinformatic developments for exome sequencing The Current Landscape of Genetic Testing in Cardiovascular Malformations: Opportunities and Challenges Disease insights through cross-species phenotype comparisons Improving the informed consent process in international collaborative rare disease research: effective consent for effective research.The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data The Human Phenotype Ontology in 2017 The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species Facilitating a culture of responsible and effective sharing of cancer genome data The role of ontologies in biological and biomedical research: a functional perspective ClinGen--the Clinical Genome Resource EHR Big Data Deep Phenotyping. Contribution of the IMIA Genomic Medicine Working Group Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers.PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes.Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases Next-generation diagnostics and disease-gene discovery with the Exomiser FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research.PhenUMA: a tool for integrating the biomedical relationships among genes and diseases.Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation.GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics.SoftPanel: a website for grouping diseases and related disorders for generation of customized panels.MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease From case studies to community knowledge base: MSeqDR provides a platform for the curation and genomic analysis of mitochondrial diseases.The Undiagnosed Diseases Program Integrated Collaboration System (UDPICS): One Program's Experience Developing Custom Software to Support Research for Complex-Disease Families.Computer-assisted initial diagnosis of rare diseases The digital revolution in phenotyping.Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.Distributed Cognition and Process Management Enabling Individualized Translational Research: The NIH Undiagnosed Diseases Program Experience.The genome clinic: a multidisciplinary approach to assessing the opportunities and challenges of integrating genomic analysis into clinical care.Phenotyping: targeting genotype's rich cousin for diagnosis.Composite likelihood method for inferring local pedigrees The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease.Recommendations for the integration of genomics into clinical practice The anatomy of phenotype ontologies: principles, properties and applications.

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P2860

PhenoTips: patient phenotyping software for clinical and research use.

http://www.wikidata.org/entity/Q38490526

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2013 nî lūn-bûn

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2013年论文

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name

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David Chitayat

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

Dimitri J Stavropoulos

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

Hanna Faghfoury

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

Joyce So

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

M Stephen Meyn

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

Marc Fiume

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

Marta Girdea

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

Peter N Ray

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

Sarah Bowdin

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

Sergiu Dumitriu

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

P2860

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

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

The human phenotype ontology.

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

Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders.

Bayesian ontology querying for accurate and noise-tolerant semantic searches.

Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users.

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1057-1065

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10.1002/HUMU.22347

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8

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34

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23636887

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