PubCaseFinder, a web service supporting the diagnosis and research of rare and genetic diseases, continuously adds new features and expands its data. Recently, four new features have been released and the first one is provided to the Japan Leading Project for Rare Disease WGS. These functions contribute to the collection of clinical information on rare disease patients in Japan.

• A new feature has been added to CaseSharing, a service that supports the management of case information for rare and genetic diseases. This tool has been released as CaseSharing “mini” and allows users to search for database IDs related to disease names and symptom names. It is being utilized by many medical institutions nationwide through the Japan Leading Project for Rare Disease WGS.
• A new filtering feature has been added to DiseaseSearch, a service that allows efficient searching of rare and genetic diseases related to patient signs and symptoms (click on the filter symbol on the far right). Users can easily narrow down diseases by selecting the area of suspected disease, mode of inheritance, gender, and age.
• A tree view feature has been added to PanelSearch, a service for searching gene panel data related to rare and genetic diseases. This feature enables more efficient searching of gene panel data.
• Many of the data utilized by PubCaseFinder are now available via PubCaseFinder API