Ontology-based expansion of virtual gene panels to improve diagnostic efficiency for rare genetic diseases
We have developed novel methods for VGP design that leverage the hierarchical structure of the Mondo disease ontology to improve rare genetic disease diagnosis efficiency. This approach identifies candidate genes without excluding disease-causing genes, and thereby improves diagnostic efficiency.
Authors
- Atsuko Yamaguchi (ORCID: https://orcid.org/0000-0001-7538-5337)
- Jaemoon Shin (ORCID: https://orcid.org/0000-0001-5859-601X)
- Toyofumi Fujiwara (ORCID: https://orcid.org/0000-0002-0170-9172)
- Hirotomo Saitsu (ORCID: https://orcid.org/0000-0003-0723-0960)
Institutions
- Tokyo City University (JP)
- Hamamatsu University School of Medicine (JP)
- Research Organization of Information and Systems (JP)
Publication Details
- Journal
- BMC Medical Informatics and Decision Making
- Published
- 2025-02-05
- DOI
- https://doi.org/10.1186/s12911-025-02910-2
- Primary Topic
- Genomics and Phylogenetic Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Research Organization of Information and Systems
- Japan Society for the Promotion of Science
- Japan Science and Technology Agency
- National Bioscience Database Center