Article
Linking common human diseases to their phenotypes; development of a resource for human phenomics.
Journal of biomedical semantics - 23 Aug 2021
Kafkas Şenay, Althubaiti Sara, Gkoutos Georgios V, Hoehndorf Robert, Schofield Paul N
Abstract excerpt
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 comprehensive, and they often do not have broad coverage of the disease terminologies, particularly ICD-10, which is...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
