A research paper titled “Ontology-based expansion of virtual gene panels to improve diagnostic efficiency for rare genetic diseases” has been published in BMC Medical Informatics and Decision Making. This study focuses on gene panel design for improving the efficiency of genome analysis in rare and intractable diseases. The paper is available at the following URL:
https://doi.org/10.1186/s12911-025-02910-2

In this study, in collaboration with Prof. Hirotomo Saitsu of Hamamatsu University School of Medicine, we proposed an optimized gene panel design method utilizing the hierarchical structure of the Mondo Disease Ontology to enhance the efficiency of genome analysis for rare and intractable diseases. Our method introduces an algorithm that enables efficient narrowing down of candidate disease-associated genes without excluding causal genes. The effectiveness of this approach was demonstrated using 74 case data. This method is expected to enable more efficient genome analysis and contribute to supporting the diagnosis of rare and intractable diseases. The gene panels constructed in this study can be searched through the DBCLS’s web service, PanelSearch.

PanelSearch: https://pubcasefinder.dbcls.jp/panelsearch