Splice site prediction

This repository contains code and jupyter notebooks to train and evaluate a transformer model with a 45k context.

Jupyter notebooks

To reproduce the results in the notebooks it is neccesary to run them roughly in the following order:

1. Construct dataset

   • construct_Ensemble_datasets.ipynb

2. Model training and evaluation

   • train_transformer_model.ipynb
   • train_spliceai_10k_model.ipynb
   • train_spliceai_model_gencode_keras.ipynb
   • test_spliceai_model_pretrained.ipynb

3. Fine-tuning on RNA-Seq annotations (only necessary for some of the analysis notebooks)

   • train_transformer_model-fine_tuning-GTEX-ICE-Combined-all.ipynb

4. Analysis

   • get_splice_site_prediction_scores.ipynb
   • spliceAI_vs_transformer_score_comparison.ipynb
   • get_attention_plots.ipynb
   • get_umap_plots.ipynb
   • plot_transformer_training_loss.ipynb
   • novel_splice_transformer.ipynb
   • get_sqtl_delta_for_transformer.ipynb

To run step 4 it is only necessary to run train_transformer_model.ipynb and train_spliceai_10k_model.ipynb from step 2, but some of the notebooks require models fine-tuned on RNA-Seq data.

It is also possible to skip step 2 and 3 and use the pre-trained models instead (/Results/PyTorch_Models).