ClinVar variant pathogenicity (ROC-AUC)

Overview

Pathogenic versus benign single-nucleotide variants from ClinVar, as curated by the GPN-MSA authors, scored from 512 bp hg38 windows: ROC-AUC of a DNA model's zero-shot log-likelihood ratio and of a linear probe on the difference between alternate and reference embeddings.

Leaderboard

Ranked results, with their source, uncertainty and floors, the protocol and a sample of the data are on the Leaderboard tab.