The clinical bioinformatics ontology: a curated semantic network utilizing RefSeq information.
Document Type
Article
Publication Date
1-1-2005
Abstract
Existing medical vocabularies lack rich terms to describe findings that are generated by modem molecular diagnostic procedures. Most bioinformatics resources were designed primarily to support the needs of the research community. We describe the development of a curated resource, the Clinical Bioinformatics Ontology (CBO), a semantic network appropriate for describing clinically significant genomics concepts. The CBO includes concepts appropriate for both molecular diagnostics and cytogenetics. A standardized methodology based on consistent application of RefSeq information is applied to the curation of the CBO in order to provide a reproducible and reliable tool. Challenges related to this curation process are discussed in this paper. At the time of submission the CBO included 4,069 concepts, associated by 8,463 relationships.
Journal Title
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing
First Page
139
Last Page
150
MeSH Keywords
Computational Biology; Cystic Fibrosis Transmembrane Conductance Regulator; Cytogenetics; Databases; Nucleic Acid; Human Genome Project; Humans; Mutation
Keywords
Semantic Networks; RefSeq; Ontology; Bioinformatics
Recommended Citation
Hoffman, M., Arnoldi, C., Chuang, I. The clinical bioinformatics ontology: a curated semantic network utilizing RefSeq information. Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing , 139-150 (2005).
COinS
