SPiP
Bioinformatics pipeline utilizing statistical thresholds for deep splicing analysis.
Key Info
- URL: https://sourceforge.net/projects/splicing-prediction-pipeline/
- Category: Splicing
- API: Yes
- Free: Free
- ACMG Relevance: PP3
- Link Status: Unchecked
Why It Matters
Specifically defines new meta-scores capable of detecting de novo and cryptic splice site creation with high clinical specificity.
STRC Research Usage
Not yet tested on E1659A.
Next Steps
- Verify URL accessibility
- Test with STRC E1659A variant if applicable
- Document specific results
Connections
- STRC Variant c.4976A>C — Misha [see-also]
- STRC Gene [about]