Article

Integration of variant annotations using deep set networks boosts rare variant association genetics

2023-07-13

Abstract excerpt

Rare genetic variants can strongly predispose to disease, yet accounting for rare variants in genetic analyses is statistically challenging. While rich variant annotations hold the promise to enable well-powered rare variant association tests, methods integrating variant annotations in a data-driven manner are lacking. Here, we propose DeepRVAT, a model based on set neural networks that learns burden scores from r...

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Literature Corpus work: 7ce6c17f-40e1-530d-8092-4fbfbc5faa8f
DOI: 10.1101/2023.07.12.548506

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