--- language: en library_name: sklearn license: mit tags: - sklearn - tabular-classification - genomics - gwas - gene-prioritization --- # Locus-to-Gene (L2G) Model The locus-to-gene (L2G) model prioritises likely causal genes at each GWAS locus based on genetic and functional genomics features. ## Model Description This is a **Gradient Boosting Classifier** (XGBoost) trained to predict causal genes at GWAS loci. Limited to protein-coding genes with available feature data. **Key Features:** - **Distance**: proximity from credible set variants to gene - **Molecular QTL Colocalization**: evidence from expression/protein QTL studies - **Variant Pathogenicity**: VEP (Variant Effect Predictor) scores ## Usage ```python from gentropy.method.l2g.model import LocusToGeneModel from gentropy.common.session import Session # Load model from Hugging Face Hub session = Session() model = LocusToGeneModel.load_from_hub( session=session, hf_model_id="opentargets/locus_to_gene" ) # Make predictions on your L2G feature matrix predictions = model.predict(your_feature_matrix, session) ``` ## Training - **Architecture**: XGBoost Gradient Boosting Classifier - **Training Data**: Curated positive/negative gene-locus pairs from Open Targets - **Evaluation Metric**: Area under precision-recall curve (AUCPR) ## Citation If you use this model, please cite: ```bibtex @article{ghoussaini2021open, title={Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics}, author={Ghoussaini, Maya and Mountjoy, Edward and Carmona, Maria and others}, journal={Nature Genetics}, volume={53}, pages={1527--1533}, year={2021}, doi={10.1038/s41588-021-00945-5} } ``` ## More Information - **Repository**: [opentargets/gentropy](https://github.com/opentargets/gentropy) - **Documentation**: [L2G Method Docs](https://opentargets.github.io/gentropy/python_api/methods/l2g/_l2g/) - **Developer**: Open Targets