Endpoint Browser

Endpoint Browser is a tool to visualize hierarchy and relatedness between similar endpoints. It visualizes how the endpoints are related in terms of ICD10 codes and patients' overlaps. Endpoint Browser is available to everyone at

https://geneviz.aalto.fi/endpoint_browser_2.0/

(no credentials or registration needed)

Endpoints in Endpoint Browser are also accessible from Endpoints' pages in Risteys.

Tutorials and presentations

• New FinGen tools and their application to example diseases from Users' meeting 28th March 2023 recording (at 25min 23sec) including usage of Endpoint Browser.

• Endpoint Browser tutorial from Users' meeting 30th May 2023 (at 12min 19src)

Browsing with Endpoint Browser

On the front page search for the ICD10 code or FinnGen Endpoint or select a code from the menu on the left.

Selecting an ICD10 code from the left side menu opens up a front page of that ICD block showing a list of FinnGen endpoints having selected ICD10 codes. The front page shows GWAS hits, Endpoint's name, case counts and sex ratio, and links to Risteys, PheWeb, and Network view. Dots in the Cases column represent the size of the Endpoint compared to other endpoints and bars represent the portion of males and females in the endpoint. Endpoints can be filtered based on various criteria, including the number of GWAS hits and core endpoints (indicated by purple circles), endpoint names and codes, conductors of the endpoint meta-analysis (UK = UK Biobank, EST = Estonian Biobank), number of cases and sex ratio.

The Network view

The Network view is accessible from the front page of the ICD block (above) and also from Endpoint Browser -link on the Endpoint's page in Risteys.

In the Network view the selected endpoint is highlighted in purple. It visualizes the way the selected waypoint is connected to other endpoints by using the Jacard distance (the greater the Jacard distance, the more the endpoints are connected). The Network view automatically filters out some endpoints to make the view readable, but more endpoints can be added to the view from the list on the right by pressing + Network.

Heatmap

Another useful tool for inspecting the relationships between different endpoints is the Heatmap view. Endpoints can be added to the Heatmap by pressing + Heatmap from the Lists or Network section and the Heatmap can be accessed by pressing Heatmap from the top of the page. With Heatmap the overlaps of ICD codes between different endpoints can be observed closely.