New AbSplice Prediction Scores track for hg19

[Gerardo Perez]

Hello Everyone,

We are excited to announce the release of the AbSplice scores track that was previously only on GRCh38/hg38 and is now also available on the human GRCh37/hg19 genome assembly. AbSplice is a method that predicts aberrant splicing across human tissues, as described in Wagner, Çelik et al., 2023. This track consists of an aberrant splicing benchmark dataset that spans over 8.8 million rare variants in 49 human tissues from the Genotype-Tissue Expression (GTEx) dataset and displays precomputed AbSplice scores for all possible single-nucleotide variants genome-wide. The AbSplice score is a probability estimate of how likely aberrant splicing of some sort takes place in a given tissue. Aberrant splicing predictions for tissues that are related to disease may prove to be helpful in identifying the effector gene. 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. We would also like to thank Jeltje van Baren, Jairo Navarro, and Gerardo Perez for their efforts on this release.