FRASER2

Intron-centric aberrant splicing caller utilizing empirical RNA-seq data.

Key Info

• URL: https://github.com/gagneurlab/FRASER
• Category: Splicing
• API: Yes
• Free: Free
• ACMG Relevance: PS3, BS3

Why It Matters

Provides the empirical ground truth required to mathematically validate whether a predicted variant actually disrupts splicing in a living cell.

How to Use

See https://github.com/gagneurlab/FRASER 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]