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

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 are not...

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Detalles Bibliográficos
Autores principales: Kafkas, Şenay, Althubaiti, Sara, Gkoutos, Georgios V., Hoehndorf, Robert, Schofield, Paul N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8383460/
https://www.ncbi.nlm.nih.gov/pubmed/34425897
http://dx.doi.org/10.1186/s13326-021-00249-x