MMSplice

Modular modeling framework predicting the usage of cassette exons.

Key Info

• URL: https://github.com/gagneurlab/MMSplice_MTSplice (repo renamed from MMSplice)
• Category: Splicing
• API: Yes
• Free: Free
• ACMG Relevance: PP3
• Link Status: Verified 2026-04-09 — repo renamed to MMSplice_MTSplice ★42

Why It Matters

Instead of focusing purely on splice junctions, it identifies complex pathogenic mutations that alter entire exon inclusion rates.

How to Use

See https://github.com/gagneurlab/MMSplice_MTSplice for documentation and access.

STRC Research Usage

Not directly applicable to E1659A via API. Requires local installation or web interface. See documentation for manual usage.

Next Steps

• Test with STRC E1659A variant
• Verify API access
• Document specific results

Connections

• STRC Variant c.4976A>C — Misha [see-also]
• STRC Gene [about]