marin-dna/

evals_mendelian_traits

Variant-effect-prediction benchmark of pathogenic Mendelian SNVs vs gnomAD common SNVs, 1:9 matched within consequence categories on (chrom, consequence_final) plus subset-targeted distance bins.

	Description




	




	

Positives OMIM ∪ Smedley et al. 2016 ∪ HGMD (latter via Sei, Chen et al. Nat Genet 2022), deduplicated, gnomAD AF<0.001

Negatives gnomAD common: AN≥25 000 and AF>0.001, 1:9 matched per positive

Genome build GRCh38… See the full description on the dataset page: https://huggingface.co/datasets/marin-dna/evals_mendelian_traits.