Independent Genomics England test: SpliceAI2 hits 0.59 auPRC vs AlphaGenome 0.36
anshulkundaje · x · 2026-10-16
The authors repeat the GTEx GT/AG evaluation using Genomics England WGS and RNA-seq (realigned using personal genomes), providing another independent test of cryptic splice site activation detection. With 3,065 cryptic sites against 1,775,800 nulls, SpliceAI2 reaches 0.59 auPRC, well above SpliceAI (0.48), Pangolin (0.40), and AlphaGenome (0.36).
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