New Splicing Impact Prediction Scores super track (hg19/hg38) and SpliceVarDB track for hg38

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Gerardo Perez

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Mar 5, 2025, 2:58:13 PMMar 5
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Hello Everyone,

We are excited to announce the new Splicing Impact Prediction Scores and Databases super track for the hg38/GRCh38 and hg19/GRCh37 human assemblies. This super track includes the AbSplice ScoresSpliceAI, and, for hg38, the new SpliceVarDB trackSpliceVarDB is an online database consolidating over 50,000 variants assayed for their effects on splicing in over 8,000 human genes. The SpliceVarDB authors evaluated over 500 published data sources and established a spliceogenicity scale to standardize, harmonize, and consolidate variant validation data generated by a range of experimental protocols. SpliceVarDB data is displayed as lollipop plots, color-coded by score value. A score of 3 indicates a Splice-altering variant, 2 represents a Low-frequency variant, 1 is classified as Normal, and 0 denotes Conflicting data.

hg38 session
  visualizing the SpliceVarDB track

We would like to thank the SpliceVarDB team for providing the data to UCSC. We would also like to thank Jeltje van Baren, Max Haeussler, Luis Nassar, Jairo Navarro, and Gerardo Perez for their efforts on this release.


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