The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease
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Novel bioinformatic developments for exome sequencingThe Human Phenotype Ontology in 2017Omics-Based Strategies in Precision Medicine: Toward a Paradigm Shift in Inborn Errors of Metabolism InvestigationsNew insights into the generation and role of de novo mutations in health and diseaseExploring human disease using the Rat Genome DatabaseGene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial featuresDisGeNET: a comprehensive platform integrating information on human disease-associated genes and variantsThe Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across speciesFacilitating a culture of responsible and effective sharing of cancer genome dataInteroperability between phenotypes in research and healthcare terminologies--Investigating partial mappings between HPO and SNOMED CTLinking rare and common disease: mapping clinical disease-phenotypes to ontologies in therapeutic target validationClinVar: public archive of interpretations of clinically relevant variantsThe BioGRID interaction database: 2017 updateGeneWeaver: data driven alignment of cross-species genomics in biology and disease.Fusing literature and full network data improves disease similarity computation.mirVAFC: A Web Server for Prioritizations of Pathogenic Sequence Variants from Exome Sequencing Data via Classifications.Knowledge Representation and Management: a Linked Data Perspective.Navigating the Phenotype Frontier: The Monarch InitiativeMapping Phenotypic Information in Heterogeneous Textual Sources to a Domain-Specific Terminological ResourcePCAN: phenotype consensus analysis to support disease-gene association.Predicting disease-related genes using integrated biomedical networks.[Diagnostics in human genetics : Integration of phenotypic and genomic data].Innovative measures to combat rare diseases in China: The national rare diseases registry system, larger-scale clinical cohort studies, and studies in combination with precision medicine researchGWASdb v2: an update database for human genetic variants identified by genome-wide association studies.RegenBase: a knowledge base of spinal cord injury biology for translational researchFrom case studies to community knowledge base: MSeqDR provides a platform for the curation and genomic analysis of mitochondrial diseases.The Qatar genome: a population-specific tool for precision medicine in the Middle EastLinking MedDRA(®)-Coded Clinical Phenotypes to Biological Mechanisms by the Ontology of Adverse Events: A Pilot Study on Tyrosine Kinase Inhibitors.Challenges and disparities in the application of personalized genomic medicine to populations with African ancestry.Applying Precision Public Health to Prevent Preterm Birth.Efficient Results in Semantic Interoperability for Health Care. Findings from the Section on Knowledge Representation and Management.Best Practices in Manual Annotation with the Gene Ontology.Human genotype-phenotype databases: aims, challenges and opportunities.Towards efficiency in rare disease research: what is distinctive and important?Unravelling the human genome-phenome relationship using phenome-wide association studies.A Clinician's perspective on clinical exome sequencing.Interactive Exploration, Analysis, and Visualization of Complex Phenome-Genome Datasets with ASPIREdbIdentification of Vulnerable Cell Types in Major Brain Disorders Using Single Cell Transcriptomes and Expression Weighted Cell Type Enrichment.eRAM: encyclopedia of rare disease annotations for precision medicine.Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.
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P2860
The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease
description
2015 nî lūn-bûn
@nan
2015 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease
@ast
The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease
@de
The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease
@en
The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease
@nl
type
label
The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease
@ast
The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease
@de
The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease
@en
The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease
@nl
prefLabel
The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease
@ast
The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease
@de
The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease
@en
The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease
@nl
P2093
P2860
P50
P3181
P1476
The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease
@en
P2093
Andreas Zankl
Anthony J. Brookes
Christopher J. Mungall
Dawid Moldenhauer
Drashtti Vasant
Lynn Marie Schriml
Nicole L. Washington
Paul N. Schofield
Peter N. Robinson
Suzanna E. Lewis
P2860
P304
P3181
P356
10.1016/J.AJHG.2015.05.020
P407
P50
P577
2015-07-01T00:00:00Z