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Probabilistic Analysis of Rare variants Modeled In Genome-wIde ANnotation-informed Overdispersion test

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parmigiano: Probabilistic Analysis of Rare variants Modeled In Genome-wIde ANnotation-informed Overdispersion test

We develop a Bayesian hierarchical genome-wide rare variant association test with parmigiano. Our model learns genome-wide trait-specific functional annotation importance, gene weights, covariate coefficients, and the proportion of burden versus dispersion signals. We apply our model to whole-genome sequencing data from the Alzheimer's disease Sequencing Project.

parmigiano model

Detailed tutorial coming soon!

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Probabilistic Analysis of Rare variants Modeled In Genome-wIde ANnotation-informed Overdispersion test

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