Genome Therapy
Sequence-to-expression "oracles" (Enformer, Borzoi, AlphaGenome, Evo2) and the generative-DNA designers built on them all aim to predict how cis-regulatory DNA sets a gene's expression.
Core trick
Scores predicted expression change from sequence models against single-cell CRISPRi truth using gene-clustered bootstrap intervals and DeLong tests.
Description
Sequence-to-expression "oracles" (Enformer, Borzoi, AlphaGenome, Evo2) and the generative-DNA designers built on them all aim to predict how cis-regulatory DNA sets a gene's expression. But they are rarely scored on the quantity that matters for regulatory therapeutics: the change in expression (Δ) a real perturbation produces, measured against experimental ground truth and against a trivial baseline.
CIS-Δ is a reproducible benchmark that does exactly that. It scores a model's predicted Δ for a (cell-context, cis-intervention) pair against experimental truth — single-cell CRISPRi/CRISPRa, eQTL fine-mapping, reporter MPRA — across seven scoring axes, anchored on 90,955 K562 CRISPRi pairs. We ship a one-file submission format, a scoring harness with gene-clustered bootstrap CIs and DeLong tests, an auto-generated leaderboard, and a self-test that round-trips committed truth to one part in a million.
The finding is a carefully-bounded negative result. On distal-enhancer CRISPRi, a naive distance-to-TSS baseline out-ranks Borzoi and Enformer (AUROC 0.87), because 71–88% of real regulatory links fall outside the models' receptive field. On natural-variation eQTLs the oracles do clear the distance prior (AlphaGenome, significant after FDR correction) — but statistical fine-mapping still out-ranks them. And cell-type specificity can't be demonstrated at all: the eQTL ground truth is 93–96% shared across tissues, so that axis is under-powered by construction. Even the 2026 state of the art does not close the gap.
Why it matters: before trusting a sequence model to design a regulatory edit, you need to know it can score one better than distance-to-TSS. CIS-Δ is the instrument that checks — and a living leaderboard the field can submit to.
README excerpt
<div align="center"> # CIS-Δ · PerturbExpression **Do DNA sequence models actually predict the *change in expression* a real *cis*-regulatory perturbation produces?** *A perturbation-grounded benchmark that scores predicted Δ against experimental ground truth — and against a naive genomic baseline.* [**📄 Full Paper (PDF)**](CIS-Delta_paper.pdf) · [**📊 Leaderboard**](docs/leaderboard.md) · [**📋 Executive Summary**](docs/CIS-Delta_executive_summary.md) · [**📚 References**](docs/references.md) </div> --- ## The problem Two fields are converging on one goal: sequence-to-expression **"oracles"** (Enformer, Borzoi, AlphaGenome, Evo2) and the **generative-DNA designers** built on top of them. Both aim to predict — or engineer — how *cis*-regulatory DNA sets a gene's expression. Yet neither is routinely scored on the quantity that matters for regulatory therapeutics: the **change in expression (Δ)** a real perturbation produces, measured against experimental ground truth *and* compared against a naive baseline. Designers are typically evaluated by the very oracle that guided them (circular), or on episomal reporters stripped of native chromatin. **CIS-Δ closes that gap** — it scores a model's predicted Δ for a *(cell-context, intervention)* pair against measured Δ, across seven assay axes, under one metric. > A submission is one file of predicted Δ keyed by `pair_id`. The scorer runs **seven assay axes under one metric*