SpliceAI2 shows strongest phenotype-gene enrichment among splice predictors
anshulkundaje · x · 2026-10-16
Using Genomics England genomes with matched phenotype data, the authors test enrichment of predicted splice variants in phenotype-associated genes, plotting odds ratios against excess phenotype-matched variant counts across score thresholds relative to phenotype-shuffled controls. SpliceAI2 peaks near an odds ratio of 10, above AlphaGenome, SpliceAI, Pangolin, and AVI.
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