@genebe/spliceai

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SOTA Splicing Variants impact predictions

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README.md
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About 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
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.