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#rare-disease

2 articles tagged with #rare-disease.

What the SpliceAI2 paper shows about predicting splice-altering variants

In its developers' comparisons, SpliceAI2 scored above SpliceAI, Pangolin and AlphaGenome on every benchmark printed, including cryptic splicing in Genomics England blood RNA-seq. Every value is developer-reported, most test variants lie in genes the model was trained on, no uncertainty is printed, and motif scoring, the baseline for both use cases, was not compared.

#rare-disease #splicing #variant-interpretationOct 13, 2026
12 min read

What published comparisons show about confirming splice variants in patient RNA

SpliceAI and Pangolin lead the DNA-based predictors on variants tested in patient RNA, and SpliceAI beats motif scoring on the same data, but no predictor replaces the RNA test. RNA-seq outlier callers recover between none and most known events and flag outliers in nearly every negative sample.

#rare-disease #rna-seq #splicingOct 12, 2026
22 min read