AbSplice-DNA (hg38)

AbSplice-DNA predicts the probability that a variant causes aberrant splicing in a given tissue. See the publication: https://www.nature.com/articles/s41588-023-01373-3.<br> Here, we provide precomputed AbSplice-DNA scores for 49 human tissues and all possible SNVs genome-wide for hg38. This version contains 19,728 protein coding genes. The folder 'AbSplice_DNA_hg38_snvs' contains all scores.<br> The folder 'AbSplice_DNA_hg38_snvs_high_scores' contains scores above 3 different cutoffs: high cutoff (0.2), medium cutoff (0.05), low cutoff (0.01). These cutoffs approximately have the same recalls as the high, medium and low cutoffs of SpliceAI. AbSplice scores are tissue-specific. In case users require a single score we recommend to use the maximum AbSplice score across tissues (excluding Testis). AbSplice-DNA scores can be computed with the python package 'absplice': https://github.com/gagneurlab/absplice This dataset includes SpliceAI scores. The scores are free for academic and not-for-profit use; other use requires a commercial license from Illumina, Inc., see the GitHub repository of SpliceAI: https://github.com/Illumina/SpliceAI/tree/master