Our colleagues Pilar Cacheiro and Damian Smedley from the IMPC have contributed to this review published in the Prenatal Diagnosis journal.
Together with experts in maternal, fetal and paediatric medicine, they delve into the importance of collecting, consolidating, and standardising extensive phenotype and genetic data in the prenatal domain. Efforts in this direction include the development of interoperable standards and phenotype-driven tools like Exomiser, which could be adapted for application in the prenatal setting.
In this context, they emphasise how the abundant data on phenotypes in model organisms offers an opportunity to advance variant interpretation, gene prioritisation and novel gene discovery in the prenatal space.
The comparison across species is facilitated by aligning specific disease and/or patient phenotypes (Human Phenotype Ontology, HPO terms) and individual mouse phenotypes (Mammalian Phenotype Ontology, MP terms). The article includes examples of IMPC mouse knockouts with phenotypic information across various life stages, and highlights their correlation with reported phenotypes associated with the corresponding human gene orthologs.
Full article link: https://doi.org/10.1002/pd.6522