Score splicing variant effects with SpliceAI/Pangolin delta scores (DS_AG/DS_AL/DS_DG/DS_DL) and AlphaGenome. Use when scoring a VCF for splice disruption, interpreting DS thresholds, or ranking cryptic splice-site variants.
Score splicing variant effects with SpliceAI/Pangolin delta scores (DS_AG/DS_AL/DS_DG/DS_DL) and AlphaGenome. Use when scoring a VCF for splice disruption, interpreting DS thresholds, or ranking cryptic splice-site variants.