GeneSplicer

Detects splice sites in genomic DNA sequences using maximal dependence decomposition.

Key Info

• URL: https://ccb.jhu.edu/software/genesplicer/
• Category: Splicing
• API: Yes
• Free: Free
• ACMG Relevance: PP3
• Link Status: Unchecked

Why It Matters

Excellent for identifying hidden, highly degenerate splice motifs that modern deep learning models occasionally misclassify.

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]