Promoting Medical Genetics

PubCaseFinder is directed toward medical genetics specialists, genetic counselors, pediatricians, and other clinicians related to rare and genetic diseases.

Statistics

7400

Genetic Diseases

3200

Rare Diseases

3600

Genes

18400

Cases

Citation

When you use PubCaseFinder in your publications, please cite:

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.


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., 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.

Special Thanks

Memberships & Collaborators