Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users.
about
The Human Phenotype Ontology: Semantic Unification of Common and Rare DiseaseUpdates to BioSamples database at European Bioinformatics InstituteEnsembl 2014The Human Phenotype Ontology project: linking molecular biology and disease through phenotype dataThe Human Phenotype Ontology in 2017Ensembl 2013DisGeNET: 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 speciesEnsembl 2017Reconciling evidence-based medicine and precision medicine in the era of big data: challenges and opportunitiesClinVar: public archive of interpretations of clinically relevant variantsThe IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligandsCrowdsourced direct-to-consumer genomic analysis of a family quartetClinical interpretation of CNVs with cross-species phenotype dataRare diseases in ICD11: making rare diseases visible in health information systems through appropriate codingAnalysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinicsIUPHAR-DB: updated database content and new featuresHarnessing public domain data to discover and validate therapeutic targets.The Mammalian Phenotype Ontology as a unifying standard for experimental and high-throughput phenotyping dataA new coding system for metabolic disorders demonstrates gaps in the international disease classifications ICD-10 and SNOMED-CT, which can be barriers to genotype-phenotype data sharing.Prioritizing genes for X-linked diseases using population exome data.The collective impact of rare diseases in Western Australia: an estimate using a population-based cohortGLADIATOR: a global approach for elucidating disease modules.Next-generation diagnostics and disease-gene discovery with the ExomiserUse of model organism and disease databases to support matchmaking for human disease gene discovery.Prevalence of sexual dimorphism in mammalian phenotypic traitsRD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research.Text mining in cancer gene and pathway prioritization.A framework for annotating human genome in disease contextNext generation phenotyping using the unified medical language systemEffective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genomeOrgan system heterogeneity DB: a database for the visualization of phenotypes at the organ system levelPhenUMA: a tool for integrating the biomedical relationships among genes and diseases.Coverage of rare disease names in standard terminologies and implications for patients, providers, and research.Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders.Phenolyzer: phenotype-based prioritization of candidate genes for human diseases.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.Computer-assisted initial diagnosis of rare diseasesThe digital revolution in phenotyping.
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P2860
Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Representation of rare disease ...... rve a wide range of end users.
@en
type
label
Representation of rare disease ...... rve a wide range of end users.
@en
prefLabel
Representation of rare disease ...... rve a wide range of end users.
@en
P2093
P2860
P356
P1433
P1476
Representation of rare disease ...... rve a wide range of end users.
@en
P2093
Annie Olry
Bruno Urbero
Maja Miličić Brandt
Segolene Ayme
P2860
P304
P356
10.1002/HUMU.22078
P577
2012-04-06T00:00:00Z