Querying phenotype-genotype relationships on patient datasets using semantic web technology: the example of cerebrotendinous xanthomatosis

BACKGROUND: Semantic Web technology can considerably catalyze translational genetics and genomics research in medicine, where the interchange of information between basic research and clinical levels becomes crucial. This exchange involves mapping abstract phenotype descriptions from research resour...

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Hlavní autoři: Taboada, María, Martínez, Diego, Pilo, Belén, Jiménez-Escrig, Adriano, Robinson, Peter N, Sobrido, María J
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2012
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3444309/
https://ncbi.nlm.nih.gov/pubmed/22849591
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1472-6947-12-78
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