WAWABILITY July 11–12, 2025 Washington DC. Big ideas. Bold Progress. Global Impact. Powered by TDIforAccess.
WAWABILITY July 11–12, 2025 Washington DC. Big ideas. Bold Progress. Global Impact. Powered by TDIforAccess.

C-G.39: Expanding Gene Ontology coverage of the human functionome in the PAN-GO project

Keywords

GO annotation, Phylogeny, functionome
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Understanding the functions of protein-coding genes in the human genome has long been a central goal of biomedical research. Over the past two decades, significant progress has been made, driven by improved genome annotation and major advances in the experimental characterization of human genes and their homologs in well-studied model organisms. Within the Gene Ontology knowledgebase, functional information has been systematically integrated using an evolutionary framework based on phylogenetic trees. This approach enabled the construction of curated models of function evolution and supported the initial assignment (version 1.0, February 2025) of at least one functional characteristic to 82% of human protein-coding genes. Importantly, each annotation can be traced back to experimental evidence from human and/or non-human model systems. Here, we describe the second phase of this effort, which focuses on improving existing annotations and expanding coverage by addressing annotation gaps through both manual curation and AI-guided approaches. In version 2.0 of the PAN-GO functionome (https://functionome.geneontology.org/), coverage of human protein-coding genes has increased to 84% (an increase of 400 genes compared to version 1.0). Additionally, annotations were improved for thousands of genes, and 47% of genes now have Gene Ontology annotations across all three aspects - Molecular Function (MF), Biological Process (BP), and Cellular Component (CC) - representing a 5% increase (1000 genes) compared to the previous version. Further improvements have already been made in preparation for a third version. Co-authors: Huaiyu Mi, Li Ni, Pascale Gaudet, Anushya Muruganujan, Dustin Ebert, Tremayne Mushayahama, Paul D. Thomas

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