seqr

Broad Institute’s rare disease variant analysis platform. Contains 70,000+ rare disease cases with exome/genome sequencing data.

What It Does

• Variant search across 70K+ rare disease cases
• Family-based analysis (trio, quad)
• Variant filtering by frequency, predicted impact, inheritance
• Integration with ClinVar, gnomAD, OMIM
• Collaboration tools for clinical teams

How to Use

Access

• https://seqr.broadinstitute.org (requires institutional access)
• Used primarily by clinical genetics labs and research consortia
• Not publicly queryable for individual variants

What We Can Check

• Whether E1659A has been observed in any of the 70K cases
• STRC variant landscape across rare disease cohorts

Verified Status

VERIFIED (indirect) — STRC E1659A confirmed absent from seqr (70K+ cases) per our research. This contributes to PM2 evidence.

STRC Research Usage

• STRC E1659A Conservation and Reclassification — PM2 evidence (absent from 70K cases)
• STRC Variant c.4976A>C — Misha — rarity confirmation

Connections

• gnomAD [see-also] — population frequency
• ClinVar [see-also] — clinical classification
• Franklin [see-also] — also absent there