PubCaseFinder accelerates precision medicine with the phenotype-based resources.

Statistics

7000

Genetic Diseases

4000

Rare Diseases

4000

Genes

18000

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. IJCKG'21: The 10th International Joint Conference on Knowledge Graphs, 131–134, https://doi.org/10.1145/3502223.3502240


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, 43(6), 734–742. https://doi.org/10.1002/humu.24341

Special Thanks

Memberships & Collaborators