An open source software platform for rare disease genomics
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 are developing seqr as an open source web interface to make research productive, accessible, and user-friendly while leveraging resources and infrastructure at the Broad Institute.

Additional Details:

Currently, seqr is in closed beta-testing mode and is only used by our group and collaborators