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...

Full description

Bibliographic Details
Main Authors: Şenay Kafkas, Sara Althubaiti, Georgios V. Gkoutos, Robert Hoehndorf, Paul N. Schofield
Format: Article
Language:English
Published: BMC 2021-08-01
Series:Journal of Biomedical Semantics
Subjects:
Online Access:https://doi.org/10.1186/s13326-021-00249-x