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 that provides information on variants associated with those conditions, links to relevant research literature, and even a way to submit gene information to Matchmaker Exchange - a genomic discovery project that helps to address the challenge of finding genetic causes for patients with rare disease.
Launching seqr through a Terra workspace
You can launch seqr by navigating to the Data Tab of a workspace to which you have access, clicking "Files" at the bottom of the panel on the left, and then clicking "Analyze in Seqr" near the top right of your screen:
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