Create an MP -> OBA mapping

[dpavam]

The International Mouse Phenotyping Consortium (IMPC) is able to identify mouse models for known gene-disease associations and reveal novel candidates, with a primary focus on Mendelian, single-gene disorders. This is achieved through phenotypic annotations of mouse models and by leveraging the Human Phenotype Ontology (HPO) and Mammalian Phenotype Ontology (MP). However, we aim to expand the pipeline beyond Mendelian diseases by integrating traits from the Genome-Wide Association Studies (GWAS) catalog with our mouse phenotypic data.

To accomplish this, we need to be able to match all the way from MP terms (the ontology to annotate mouse phenotypes) to the Experimental Factor Ontology (the ontology to annotate human traits in the GWAS catalog), via the OBA (Ontology of Biological Attributes). To this end, we require a standardised mapping from MP to OBA. This mapping will allow us to match mouse phenotype data to human traits, bridging phenotype-genotype associations across species. We believe this will enhance the translational relevance of the IMPC’s data and provide a relevant source of evidence for the discovery of novel gene-disease associations in the complex disease space, beyond Mendelian genetics.

Some of the advantages of producing this mapping are:

1. Enhanced gene-disease association discovery
2. Creation of a standardised trait mapping platform
   • The existence of such mapping would bridge a current gap in ontology mapping as reported in Stefancsik et al. 2023
3. Provide a novel open source ontology mapping for cross-species comparison.
4. Impact on clinical research and disease diagnosis
   • To date, we have published findings on how IMPC utilises cross-species HPO-MP mappings and how researchers/clinicians have used the IMPC data to establish Mendelian gene-disease associations (Cacheiro et al. 2023). We anticipate that incorporating this new level of evidence will support the complex disease community in validating their multigenic associations.