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Illumina/SpliceAI: A deep learning-based tool to identify splice variants ·

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A deep learning-based tool to identify splice variants

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. License SpliceAI source code is provided under the PolyForm Strict License 1.0.0. SpliceAI includes several third party packages provided under other open source licenses, please see NOTICE for…

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