Patrick Masson - Gene Ontology Causal Activity Models (GO-CAMs) for human biology
Channel: Biocuration Conference 2023
Date: 2023-06-21

*Session:* April 24 - Standards 1 - 02

*Abstract:* The Gene Ontology (GO) (http://geneontology.org/) provides a human and machine readable synthesis of knowledge of the molecular functions of gene products and the cellular components and biological processes in which those functions occur. Gene Ontology Causal Activity Models (GO-CAMs) (https://geneontology.cloud/home) assemble genes and their functions into causally linked activity flow models. GO-CAMs provide a human readable description of biological systems and a framework for computational systems biology approaches such as network-based ‘omics integration and analysis and graph-based machine learning. In this presentation, we describe efforts to capture knowledge of human biology using GO-CAMs, including human gene functions, microbiome gene functions, and the regulation and roles of small molecules in human systems. These efforts build on a number of foundational pillars - a large corpus of existing GO annotations for human proteins, a draft human functionome that incorporates annotations for human proteins and orthologs using phylogenetic approaches (see poster from Feuermann et al.), small molecule annotation in UniProt from the Rhea knowledgebase of biochemical reactions (www.rhea-db.org) and the mapping of Rhea and the GO in Rhea2GO, and the creation of draft GO-CAM models of human biology from human Reactome pathway models (www.reactome.org). Our approach to synthesize this knowledge in GO-CAM and enrich it with emerging knowledge from the literature has created over 250 GO-CAM models for human biology. These and other GO-CAM models from the Gene Ontology Consortium are freely available at http://noctua.geneontology.org/.