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Web-Based Analysis and Collaboration Tool, seqr, for Rare Disease Genomics

Project seqr
Funding Cycle 5

Proposal Summary

To maintain and enhance seqr, a high quality rare disease genomic analysis platform, for usage across the global scientific community, enabling collaboration for rare disease diagnosis and gene discovery.



The seqr platform is a collaborative space for genomic analysis and project management. The team previously developed the tool’s core functions to support genomic analysis but their capacity for outreach, scaling and backend infrastructure has been limited. This grant will expand user support, create a forum for shared development of new code, develop training materials for installation and use, and incorporate features for global standardization.

Key Personnel

Heidi Rehm
Hana Snow
Christina Austin-Tse
Shifa Zhang