Agentic Curation of the Pathophysiome
Presented by:
Chris Mungall, PhD
Senior Computer Scientist, Biosystems Data Science, Berkeley Lab
Lawrence Berkeley National Laboratory
Chris Mungall, PhD is a Staff Scientist in the Environmental Genomics and Systems Biology Division at LBNL, where he heads the Biosystems Data Science department. Chris’s research interests center around the capture, computational integration, and dissemination of biological research data, and the development of methods for using this data to elucidate biological mechanisms underpinning the health of humans and of the planet. He and his team have led the creation of key biological ontologies for the integration of resources covering gene function, anatomy, phenotypes and the environment. In the Gene Ontology project and others, Chris and his collaborators develop systems that help curators translate biological knowledge into a computable form, and apply that biological knowledge to answer complex biological questions.
Abstract:
DisMech is a knowledge base that connects molecular defects to disease phenotypes through structured, literature and analysis supported mechanisms. I’ll describe how AI agents curate and review this knowledge, supported by automated checks of schemas, ontology terms, and quoted evidence. Examples from congenital disorders of glycosylation will illustrate the approach and open a discussion of how GlyGen could help connect genes, altered glycoproteins, and clinical outcomes.
