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

Project seqr

Funding Cycle 5

Proposal Summary
Project

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.

Project

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.

Key Personnel

Heidi Rehm

Affiliation

Massachusetts General Hospital and Broad Institute of MIT and Harvard

GitHub Handle

heidirehm

Hana Snow

Affiliation

Broad Institute of MIT and Harvard

GitHub Handle

hanars

Christina Austin-Tse

Affiliation

Massachusetts General Hospital and Broad Institute of MIT and Harvard

GitHub Handle

Caustint

Shifa Zhang

Affiliation

Broad Institute of MIT and Harvard

GitHub Handle

ShifaSZ