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

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…

saved by

• Eva Seigneurbieux

related reading

• Advancing regulatory variant effect prediction with AlphaGenomenature.com
• Practical Deep Learning for Coders - Practical Deep Learningcourse.fast.ai
• The Annotated Transformernlp.seas.harvard.edu
• GitHub - google-deepmind/alphafold: Open source code for AlphaFold 2. · GitHubgithub.com
• Replicate - Run AI with an APIreplicate.com
• dnaHNet: A Scalable and Hierarchical Foundation Model for Genomic Sequence Learningarxiv.org
• Leveraging supervised learning for functionally informed fine-mapping of cis-eQTLs identifies an additional 20,913 putative causal eQTLsnature.com
• rnaseq: Parametersnf-co.re
• AlphaGenome: AI for better understanding the genome — Google DeepMinddeepmind.google
• GitHub - google-research/tuning_playbook: A playbook for systematically maximizing the performance of deep learning models.github.com
• GitHub - harvardnlp/annotated-transformer: An annotated implementation of the Transformer paper. · GitHubgithub.com
• GitHub - open-edge-platform/anomalib: An anomaly detection library comprising state-of-the-art algorithms and features such as experiment management, hyper-parameter optimization, and edge inference.github.com