@genebe/spliceai:0.0.1
SOTA Splicing Variants impact predictions
Description
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/
Meta Information
Access:
PUBLIC
Author:
@genebeURL:
Created:
18 Jan 2025, 20:18:25 UTC
Type:
VARIANT
Genome:
GRCh38
Status:
ACTIVE