[genome-announce] AbSplice Prediction Scores for hg38

[Jairo Navarro Gonzalez]

Hello everyone,

We are happy to announce the release of the AbSplice scores track for the human genome, GRCh38/hg38. AbSplice is a method that predicts aberrant splicing across human tissues, as described in Wagner, Çelik et al., 2023. This track displays precomputed AbSplice scores for all possible single-nucleotide variants genome-wide. The scores represent the probability that a given variant causes aberrant splicing in a given tissue.

Aberrant splicing is a major cause of genetic disorders, but its direct detection in transcriptomes is limited to clinically accessible tissues such as skin or body fluids. Çelik et al. generated an aberrant splicing benchmark dataset spanning over 8.8 million rare variants in 49 human tissues from the Genotype-Tissue Expression (GTEx) dataset. The AbSplice score is a probability estimate of how likely aberrant splicing occurs in a given tissue. The authors suggest three cutoffs, which are represented by color in the track.

• High (red) - An AbSplice score over 0.2 indicates a high likelihood of aberrant splicing in at least one tissue.
• Medium (orange) - A score between 0.05 and 0.2 indicates a medium likelihood.
• Low (blue) - A score between 0.01 and 0.05 indicates a low likelihood.
• Scores below 0.01 are not displayed.

We would like to thank Wagner, Çelik et al., 2023 for generating and making the data publicly available.

Jairo Navarro 
UCSC Genome Browser
UC Santa Cruz Genomics Institute
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