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Linking disease terminology with gene identifiers | BioMedBridges

Linking disease terminology with gene identifiers

New data bridge between ELIXIR and BBMRI supports discovery of underlying causes of disease

Albert Pallejà Caro, Sune Frankild, David Westergaard, Pope Moseley and Søren Brunak from WP10 "Integrating disease-related data and terminology from samples of different types" have delivered a prototype linking ICD10/SNOMED CT concepts to Ensembl gene identifiers. With this project deliverable, the authors have produced a mapping between disease terminologies used to characterize patient conditions on one side and biobank samples and human gene identifies on the other.

Linking biomolecular and biobank resources in this way and thus creating another data bridge between ELIXIR and BBMRI will enable systems biology analyses with the aim of finding the underlying causes of disease and, for example, also the molecular links between diseases and their comorbidities. (The detailed report on the deliverable can be downloaded here).