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DeepRVAT

Rare variant association testing using deep learning and data-driven burden scores

Documentation Status

Installation and usage

Please consult our documentation

Citation

If you use this package, please cite:

Clarke, Holtkamp et al., “Integration of Variant Annotations Using Deep Set Networks Boosts Rare Variant Association Genetics.” bioRxiv. https://dx.doi.org/10.1101/2023.07.12.548506

Credits

Portions of code for the seed gene discovery methods have been adapted from SEAK

This package was created with Cookiecutter and the audreyr/cookiecutter-pypackage project template.

Cookiecutter: https://github.com/audreyr/cookiecutter audreyr/cookiecutter-pypackage: https://github.com/audreyr/cookiecutter-pypackage