D4 · 变异效应与进化

分子功能性/致病变异解释

Restricted here to molecular/functional challenges; patient-level diagnosis and PRS are excluded.

Molecular functional or pathogenic variant interpretation

T39DNA/RNAclassification/ranking

任务定义

输入粒度
variant plus molecular context
生物学目标
functional consequence/pathogenicity
输出表示
class or score
ML formulation
classification/ranking
计数说明
NR

Benchmark coverage

2 个 benchmark 覆盖该任务

B20无公开数值结果

CAGI molecular/functional challenges

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

0 个 benchmark 数值协议 · 0 条 benchmark 全局结果(非 task 小计)

评测协议

2 个口径单元

ProtocolTrackSplit / subset可比状态
PROT-B03-VARIANT-EFFECTS-DISEASE-OFFICIAL-ZE-9C85FF58-6CB6E8D4variant_effects_disease
NR
official zero-shot disease-variant set
variant effects disease
same_table_comparable
inference_budget
P-B08-PATHOGENICBenchmarking DNA foundation models for genomic and genetic tasks — Molecular functional or pathogenic variant interpretation
B08-TR06
nested chromosome-based held-out test groups
pathogenic versus common SNP
same_table_comparable
cross-work compute/hardware equivalence