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Model description

The locus-to-gene (L2G) model derives features to prioritise likely causal genes at each GWAS locus based on genetic and functional genomics features. The main categories of predictive features are:

- Distance: (from credible set variants to gene)
- Molecular QTL Colocalization
- Chromatin Interaction: (e.g., promoter-capture Hi-C)
- Variant Pathogenicity: (from VEP)

More information at: https://opentargets.github.io/gentropy/python_api/methods/l2g/_l2g/

Intended uses & limitations

[More Information Needed]

Training Procedure

Gradient Boosting Classifier

Hyperparameters

Click to expand
Hyperparameter Value
ccp_alpha 0.0
criterion friedman_mse
init
learning_rate 0.1
loss log_loss
max_depth 5
max_features
max_leaf_nodes
min_impurity_decrease 0.0
min_samples_leaf 1
min_samples_split 2
min_weight_fraction_leaf 0.0
n_estimators 100
n_iter_no_change
random_state 42
subsample 1.0
tol 0.0001
validation_fraction 0.1
verbose 0
warm_start False

How to Get Started with the Model

To use the model, you can load it using the LocusToGeneModel.load_from_hub method. This will return a LocusToGeneModel object that can be used to make predictions on a feature matrix. The model can then be used to make predictions using the predict method.

More information can be found at: https://opentargets.github.io/gentropy/python_api/methods/l2g/model/

Citation

https://doi.org/10.1038/s41588-021-00945-5

License

MIT