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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Detalles Bibliográficos
Autores principales: Taboada, María, Martínez, Diego, Pilo, Belén, Jiménez-Escrig, Adriano, Robinson, Peter N, Sobrido, María J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3444309/
https://www.ncbi.nlm.nih.gov/pubmed/22849591
http://dx.doi.org/10.1186/1472-6947-12-78

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