From a clinical workflow perspective, this specialized search engine (http://pubcasefinder.dbcls.jp) for rare genetic syndromes makes it much easier to diagnose rare genetic conditions than a general search engine like Google.

References:

Shin, J., Fujiwara, T., Saitsu, H., & Yamaguchi, A. (2025). Ontology-based expansion of virtual gene panels to improve diagnostic efficiency for rare genetic diseases. BMC medical informatics and decision making, 25(Suppl 1), 59.

Fujiwara, T., Shin, J. M., & Yamaguchi, A. (2022). Advances in the development of PubCaseFinder, including the new application programming interface and matching algorithm. Human mutation, 10.1002/humu.24341. Advance online publication.

Yamaguchi, A., Shin, J. M., & Fujiwara, T. (2021, December). Gene Ranking based on Paths from Phenotypes to Genes on Knowledge Graph. In The 10th International Joint Conference on Knowledge Graphs (pp. 131-134).

Fujiwara, T., Yamamoto, Y., Kim, J. D., Buske, O., & Takagi, T. (2018). PubCaseFinder: A case-report-based, phenotype-driven differential-diagnosis system for rare diseases. The American Journal of Human Genetics, 103(3), 389-399.