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OpenSpliceAI provides an efficient modular implementation of SpliceAI enabling easy retraining across nonhuman

Kuan-Hao Chao1,2, Alan Mao1,2,3, Anqi Liu1

  • 1Department of Computer Science, Johns Hopkins University, Baltimore, United States.

Elife
|October 30, 2025
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Summary

OpenSpliceAI is a new, open-source deep learning tool for identifying DNA splicing signals. It offers faster processing and lower memory use than SpliceAI, enabling broader genomic analyses.

Keywords:
A. thalianaPyTorchSplice site predictionSpliceAITransfer learningarabidopsis thalianacomputational biologydeep learninghoneybeehumanmousesplice junctionssystems biologyzebrafish

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Area of Science:

  • Genomics
  • Bioinformatics
  • Machine Learning

Background:

  • SpliceAI is a leading deep learning method for identifying splicing signals in DNA.
  • Its utility is limited by outdated software and human-centric training data.

Purpose of the Study:

  • Introduce OpenSpliceAI, an open-source, trainable PyTorch version of SpliceAI.
  • Address limitations of SpliceAI by enabling species-specific retraining and mitigating human bias.

Main Methods:

  • Implemented SpliceAI in PyTorch as OpenSpliceAI.
  • Enabled training from scratch and transfer learning capabilities.
  • Performed comparative experiments on processing speed, memory usage, and concordance with SpliceAI.

Main Results:

  • OpenSpliceAI demonstrates faster processing speeds and lower memory usage compared to SpliceAI.
  • Achieved high concordance between OpenSpliceAI and SpliceAI outputs.
  • In silico mutagenesis and calibration experiments confirmed similar reliance on sequence features and score probability estimates.

Conclusions:

  • OpenSpliceAI provides a more efficient and flexible alternative to SpliceAI for splicing signal identification.
  • Its open-source nature and retraining capabilities facilitate large-scale, species-specific genomic analyses.
  • The tool integrates well with existing machine learning ecosystems for custom splicing model development.