Seqr is an open source web interface to make research productive, accessible, and user-friendly for medical researchers working on rare diseases genomics. It's a portal for searching through genomic data of rare diseases. Seqr provides information on variants associated with those conditions, and links to relevant research literature.
Launching seqr through a Terra workspace
To launch seqr, navigate to the Data Tab of one of your workspaces, click "Files" at the bottom of the panel on the left, and then click "Analyze in Seqr" near the top right of your screen.
Using Seqr, you can submit gene information to Matchmaker Exchange - a genomic discovery project dedicated to finding genetic causes for patients with rare diseases.
To learn more about how to use seqr and how it's implemented in AnVIL, check out some of the links below:
- Announcement of seqr availability on AnVIL
- Seqr homepage
- Video playlist: Series of short youtube videos showcasing seqr functionality
If you run into any issues using seqr, please contact the Seqr support team by emailing seqr@broadinstitute.org.