Enformer

Maps DNA sequences to RNA expression and chromatin states using transformer networks.

Key Info

• URL: https://github.com/google-deepmind/deepmind-research (org renamed: deepmind → google-deepmind)
• Category: Regulatory
• API: Yes
• Free: Free
• ACMG Relevance: PP3
• Link Status: Verified 2026-04-09 — org renamed, repo active

Why It Matters

Radically expands the sequence context window to over 100kb, allowing for accurate prediction of distally located enhancer variants.

How to Use

See https://github.com/google-deepmind/deepmind-research 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]