Seqr is an open source web interface to make rare disease genomics research productive, accessible, and user-friendly. The Seqr portal enables effective searching of rare disease genomic data, providing 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.
Once in 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 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, please contact the Seqr support team by emailing seqr@broadinstitute.org.
