@genebe/spliceai
Latest release Active PublicSOTA Splicing Variants impact predictions
README.md
Formatted MarkdownAbout spliceai
This package annotates genetic variants with their predicted effect on splicing, as described in Jaganathan et al, Cell 2019 in press. The annotations for all possible substitutions, 1 base insertions, and 1-4 base deletions within genes are available here for download. These annotations are free for academic and not-for-profit use; other use requires a commercial license from Illumina, Inc.
Data was copied from https://basespace.illumina.com/s/otSPW8hnhaZR .
This database copy is a little modified, column max is a maximum value of DS.
You can always check values online on https://spliceailookup.broadinstitute.org/
Genome Reference & Assembly
This database is compiled for homo_sapiens using reference assembly GRCh38.
Metadata & Attributes
- Maintainer / Owner @genebe
- Database Type Variant Annotation
- Genome Assembly homo_sapiens (GRCh38)
- License Not Specified
- Created Date 18 Jan 2025, 20:18:25 UTC