D4 · Variant effect & evolution

Regulatory variant-effect prediction

Predict effects of non-coding variants on regulatory activity.

T34DNAregression/ranking

Task definition

Input granularity
reference/alternate sequence
Biological target
regulatory activity change
Output representation
delta score
ML formulation
regression/ranking
Counting notes
NR

Benchmark coverage

4 benchmarks cover this task

B03Numeric results available

BEND

Human-genome tasks with biologically aligned splits; inspect each track for leakage controls.

7 benchmark-wide protocols · 105 benchmark-wide rows (not a task subtotal)
B04No public numeric result

DART-Eval

Regulatory DNA evaluation across zero-shot, probing and fine-tuning regimes.

0 benchmark-wide protocols · 0 benchmark-wide rows (not a task subtotal)
B20No public numeric result

CAGI molecular/functional challenges

Only molecular and functional variant challenges are in scope; phenotype-from-exome and patient-level tasks are excluded.

0 benchmark-wide protocols · 0 benchmark-wide rows (not a task subtotal)

Evaluation protocols

3 protocol units

ProtocolTrackSplit / subsetComparability
P-B08-SQTLBenchmarking DNA foundation models for genomic and genetic tasks — Regulatory variant-effect prediction
B08-TR05
nested chromosome-based held-out test groups
putative causal sQTL
same_table_comparable
cross-work compute/hardware equivalence
P-B08-IPAQTLBenchmarking DNA foundation models for genomic and genetic tasks — Regulatory variant-effect prediction
B08-TR05
nested chromosome-based held-out test groups
putative causal ipaQTL
same_table_comparable
cross-work compute/hardware equivalence
P-B08-EQTLBenchmarking DNA foundation models for genomic and genetic tasks — Regulatory variant-effect prediction
B08-TR05
nested chromosome-based held-out test groups
putative causal eQTL
same_table_comparable
cross-work compute/hardware equivalence