@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:

@genebe

Pull Command:

java -jar genebe.jar annotation pull --id @genebe/spliceai:0.0.1more examples

Created:

18 Jan 2025, 20:18:25 UTC

Type:

VARIANT

Genome:

GRCh38

Status:

ACTIVE

License:

OTHER

Version: