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.Features:
- Integration with PhenoTips allows the collection of detailed phenotype information to be entered for individuals
- Integration with igv.js allows for interactive visualization of read-level data
- If you are interested in collaborating with our group, please contact us
- To get updates about seqr, join our mailing list
- The source code is available on github. Please use the github issues page to submit bug reports or feature requests
- If you are interested in other open-source variant analysis tools, we also recommend GEMINI - a flexible framework for exploring genome variation
Developed at the Analytic and Translational Genetics Unit (ATGU) at Massachusetts General Hospital (MGH) in collaboration with the Broad Institute of Harvard and MIT, seqr is the analytic platform used by the Broad’s joint Center for Mendelian Genomics.