seqr
An open source software platform for rare disease genomics
Already a seqr user?
Identify disease causing variants
Integrate data sources
Collaborate
About  seqr
Next Generation Sequencing (NGS) is a powerful diagnostic and research tool for Mendelian disease, but without proper tools, this data can be inaccessible to researchers. We have developed seqr as an open source web interface to make research productive, accessible, and user-friendly while leveraging resources and infrastructure at the Broad Institute.
View the seqr paper
seqr  is available through three methods:
Through the  AnVIL platform  where requests can be placed for loading a joint called vcf into seqr. To learn more, see the video tutorial
As a collaborator providing samples for sequencing within the  Broad Institute Center for Mendelian Genomics, part of the  GREGoR consortium
On GitHub as an  open source project for download and local installation
If you are interested in collaborating with our group, please  contact us
Please use the  github issues page  to submit bug reports or feature requests
Training videos for use of seqr are available on the  Broad YouTube channel
seqr v1.0-fa92af86FAQPrivacy PolicyTerms of ServiceFor bug reports or feature requests please submit  Github IssuesIf you have questions or feedback,  Contact Us