An informatics project and online "Knowledge Centre" supporting modern genotype-to-phenotype research.
about
Challenges and Opportunities for Exploring Patient-Level DataSemantically enabling pharmacogenomic data for the realization of personalized medicineCOEUS: "semantic web in a box" for biomedical applicationsStatus quo of annotation of human disease variants.Managing sensitive phenotypic data and biomaterial in large-scale collaborative psychiatric genetic research projects: practical considerations.Ontological phenotype standards for neurogenetics.Querying phenotype-genotype relationships on patient datasets using semantic web technology: the example of Cerebrotendinous xanthomatosis.The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicineVariation ontology: annotator guideFROG - Fingerprinting Genomic Variation Ontology.Locus-specific mutation databases for neurodegenerative brain diseasesPrimary Immunodeficiencies and Inflammatory Disease: A Growing Genetic Intersection.The evolution of human genetic studies of cleft lip and cleft palate.Annotating DNA variants is the next major goal for human genetics.Integration of global resources for human genetic variation and disease.Whole-exome sequencing as a diagnostic tool: current challenges and future opportunities.Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users.Databases for neurogenetics: introduction, overview, and challenges.Human Variome Project country nodes: documenting genetic information within a country.Bioinformatics for human genetics: promises and challenges.Challenges Storing and Representing Biomedical Data
P2860
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P2860
An informatics project and online "Knowledge Centre" supporting modern genotype-to-phenotype research.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
An informatics project and onl ...... enotype-to-phenotype research.
@en
An informatics project and onl ...... enotype-to-phenotype research.
@nl
type
label
An informatics project and onl ...... enotype-to-phenotype research.
@en
An informatics project and onl ...... enotype-to-phenotype research.
@nl
prefLabel
An informatics project and onl ...... enotype-to-phenotype research.
@en
An informatics project and onl ...... enotype-to-phenotype research.
@nl
P2093
P2860
P356
P1433
P1476
An informatics project and onl ...... enotype-to-phenotype research.
@en
P2093
Adam J Webb
Anthony J Brookes
GEN2PHEN Consortium
Gudmundur A Thorisson
P2860
P304
P356
10.1002/HUMU.21469
P577
2011-03-22T00:00:00Z