History

2026

  • 2026/04/01

  • We have added a case matching feature to CaseSharing.
    CaseSharing is a system designed to manage and share case information on rare and genetic diseases.
    With this update, users can search for related cases based on the diagnoses and gene names associated with registered cases.
    This feature enables users to identify clinicians and researchers working on cases related to the same disease or gene, thereby promoting the sharing of case information and facilitating research collaboration.

2025

  • 2025/12/01

  • We have added a custom panel feature to PanelSearch.
    PanelSearch is a public database that allows users to search and utilize Virtual Gene Panels associated with human diseases. With this update, users can now create custom panels by combining gene sets of their choice. This enables the creation of flexible gene panels tailored to specific research purposes and analysis conditions. We encourage you to make use of this feature.

  • 2025/11/01

  • We have added a filter feature to DiseaseSearch.
    DiseaseSearch is a function that allows users to search for related diseases based on phenotypic information (HPO terms). With this update, we have added a filter feature that enables users to refine search results by conditions such as disease category, inheritance pattern, and age. This allows users to explore candidate diseases for diagnosis more efficiently.

2023

  • 2023/06/07

  • We releae a beta version of the new system, CaseSharing.

    CaseSharing is a system for managing and sharing case information on rare and genetic diseases.The system can be used without user registration. Lets get an idea of how to use this system with sample data. We hope you will make use of it.

  • 2023/05/27

  • We releae a new system, PanelSearch.

    PanelSearch is a publicly-available database that allows you to search and utilize Virtual Gene Panels associated with 9,998 human diseases. Virtual Gene Panels can be used for efficient clinical interpretation of genome sequences. We hope you will make use of it.

2022

  • 2022/11/03

  • PubCaseFinder v3.1.0 is available.

  • 2022/07/13

  • PubCaseFinder v3.0.0 is abailable. We developed the new function which enable users to use the Mondo-based virtual gene panels. An example is here.

  • 2022/04/21

  • TAKEDA Japan has developed the disease search system called 'Docpedia CaseSearch' using PubCaseFinder technology and APIs.
    The press release is here.

  • 2022/04/01

  • PubCaseFinder v2.1.0 is abailable. Symptom input is now more convenient ('did you mean' algorithm available). Moreover, you can import Human Phenotype Ontology (HPO) term IDs to extract multiple HPO term IDs from any kind of textual input.

2021

  • 2021/09/26

  • PubCaseFinder v2.0.0 is abailable. The UI/UX has been greatly improved. It is possible to filter the results by combining disease, mode of inheritance, and gene with logical operators. An example is here.

2020

  • 2020/07/31

  • PubCaseFinder v1.3.0 is abailable. A ranked list of public cases on the Internet is produced based on patient phenotypes. An example is here.

  • 2020/07/27

  • PubCaseFinder v1.2.0 is abailable. A ranked list of causative genes of rare and genetic diseases is produced based on patient phenotypes. An example is here.

2019

  • 2019/10/17

  • Our poster presentation "PubCaseFinder and PhenoTouch for differential diagnosis in rare disease." was selected as Reviewers' Choice Abstracts in ASHG2019.

  • 2019/10/05

  • PubCaseFinder v1.1.0 is abailable. Datasets and ontologies are here.

2018

  • 2018/08/30

  • The PubCaseFinder paper is available on The American Journal of Human Genetics. Full text paper is here.

2017

  • 2017/09/27

  • PubCaseFinder v1.0.0 has been released.