The clinical bioinformatics ontology: a curated semantic network
utilizing RefSeq information.
Pac Symp Biocomput, (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.
Description
Bioinformatics Workflow Systems
