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

Legacy EOSS

2022

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.

seqr

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.

Project Team

Heidi Rehm Github

Massachusetts General Hospital and Broad Institute of MIT and Harvard

Hana Snow Github

Broad Institute of MIT and Harvard

Christina Austin-Tse Github

Massachusetts General Hospital and Broad Institute of MIT and Harvard

Shifa Zhang Github

Broad Institute of MIT and Harvard