Linking common human diseases to their phenotypes; development of a resource for human phenomics

Linking common human diseases to their phenotypes; development of a resource for human phenomics

Abstract Background In recent years a large volume of clinical genomics data has become available due to rapid advances in sequencing technologies. Efficient exploitation of this genomics data requires linkage to patient phenotype profiles. Current resources providing disease-phenotype associations...

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Detalles Bibliográficos
Autores principales: Şenay Kafkas, Sara Althubaiti, Georgios V. Gkoutos, Robert Hoehndorf, Paul N. Schofield
Formato: Artículo
Lenguaje:English
Publicado: BMC 2021-08-01
Colección:Journal of Biomedical Semantics
Materias:
Disease–phenotype associations
Ontologies
Text mining
UK Biobank
Acceso en línea:https://doi.org/10.1186/s13326-021-00249-x

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