Brotman Baty Institute Clinical Variant Database (BBI-CVD)
The BBI-CVD aims to serve as a hub connecting researchers studying rare disease genetics with clinicians applying precision genomics to care for patients with rare diseases. Specifically, the BBI-CVD contains a repository of genetic variants encountered during clinical testing at the University of Washington and Fred Hutch cancer center.
Our database contains Electronic health record (EHR)-linked germline genetic variants. Deidentified phenotypic information associated with each of the variants is available to researchers via our secure online data browser upon request.
To gain access to the data browser, please email our team at BBICVD@UW.edu, and we will follow up with the next steps.
Data hub: https://cvd.brotmanbaty.org/
Fiber-seq analysis pipeline
We are currently developing a machine learning tool for identifying single-molecule m6A-modified bases and chromatin architectures using PacBio HiFi sequening data. This approach provides a ~1,000x improvement in speed over traditional methods and is compatable with the PacBio Sequel II(e) and Revio sequencing chemistries. This tool is still in development, so please continue to monitor the GitHub page for any critical updates.
GitHub site: https://github.com/fiberseq