NCBO User Profile: Sean Mooney, Buck Institute for Age Research
Understanding the Molecular Causes of Genetic Diseases and Cancer
“The NCBO Web services have proven to be invaluable for enabling modern bioinformatics research in our group. We use the Annotator service to identify and study concepts present in our datasets and generate new hypotheses, it is very useful." Sean Mooney, Ph.D.
Buck Institute for Age Research
Research Interests: Sean’s research focuses on the underlying molecular causes of inherited genetic diseases and cancer. His laboratory consists of scientists and engineers working together to construct new algorithms and generate new scientific hypotheses. His lab has a compelling need to annotate large data bases with disease terms to allow easy identification of anomalies that are enriched in specific diseases.
Use of NCBO Web Services: 
Sean’s lab began to use NCBO Web services to advance research on protein mutations. They annotated a protein mutation database with disease terms from BioPortal ontologies. Then they applied NCBO hierarchy services to group mutations by categories of disease. Their goal was to identify subtypes of inherited disease that differed significantly in terms of the distribution of specific causative molecular changes. Their analysis is summarized in the figure below which shows the over or under occurrence of different protein mutations in different classes of disease. For example blood coagulation disorders were associated with a near 14-fold depletion in substitutions at O-linked glycosylation sites.
Dr. Mooney’s group relied on NCBO Web services in their work with the University of Indiana Clinical and Translational Sciences Institute to annotate clinical-trial metadata with terms from the UMLS. A spinoff company, Selican Technologies, Inc., is now commercializing Web-based software to aid scientific collaboration and has chosen to embed the NCBO Annotator service in their Laboratree system.
Sean is currently using the NCBO Ontology Recommender service to identify ontologies that can aid development of tools for studying aging related disease. The availability of BioPortal as a Web-based platform that allows review, comment, and discussion of an ontology is a strong enabler for this work.