Representing genomic knowledge in the UMLS semantic network.

Abstract

Genomics research has a significant impact on the understanding and treatment of human hereditary diseases, and biomedical literature concerning the genome project is becoming more and more important for clinicians. The Unified Medical Language System (UMLS) is designed to facilitate the retrieval and integration of information from multiple-readable biomedical information resources. This paper describes our efforts to integrate concepts important to genomics research with the UMLS semantic network. We found that the UMLS contains over 30 semantic types and most of the semantic relations that are essential for representing the underlying genomic knowledge. In addition, we observed that the organization of the network was appropriate for representing the hierarchical organization of the concepts. Because some of the concepts critical to the genomic domain were found to be missing, we propose to extend the network by adding six new semantic types and sixteen new semantic relations.