This repository contains the scripts and model predictions used in the analysis of autism-associated genetic variation and its impact on brain microexons, as detailed in our paper "An expanded repertoire of brain microexons is directly impacted by autism-associated genetic variation"
Our study presents an integrative analysis of an expanded repertoire of neuronal differential microexons and the development of a machine learning model that delineates sequence elements critical for regulating microexon splicing. We reveal a landscape of predominantly rare human genetic variation that convergently impacts a subset of microexons in genes with known and unknown links to nervous system biology and neurodevelopmental disorders.
microexon-code: This directory contains the computational workflow to perform predictions. Please see the README for instructions of this tool.DataAnalysis/: This directory contains all the scripts used for data analysis.OutputTables/: This directory contains the model predictions for all single nucleotide variants (SNVs) and autism spectrum disorder (ASD) indels identified in our study.
The predictions for all variants evaluated by our model as part of the analysis carried out in the paper are can be found at OutputTables/ASD_indels_and_ISM_SNVs.deta_code_preditions.tsv. Detail descriptions for this table and other complementary tables are found at OutputTables/README.md.
This project is licensed under the MIT License - see the LICENSE.md file for details.
If you use the scripts or data provided in this repository, please cite our paper: Parada, G.E., Bretschneider, H., et al. (2024). An expanded repertoire of brain microexons is directly impacted by autism-associated genetic variation. Journal Name, Volume(Issue), pages.
For any questions or support, please open an issue in the repository or contact the corresponding authors at their email addresses provided in the paper.