MIRAGE: a Bayesian statistical method for gene-level rare variant analysis incorporating functional annotations

Abstract excerpt

Rare variant analysis is commonly used in whole-exome or genome sequencing studies. Compared to common variants, rare variants tend to have larger effect sizes and often directly point out causal genes. These potential benefits make association analysis with rare variants a priority for human genetics researchers. To improve the power of such studies, numerous methods have been developed to aggregate information o...

Topics

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• Autism Spectrum Disorder
• Bayes Theorem
• Case-Control Studies
• Computer Simulation
• Exome Sequencing
• Genetic Variation
• Models, Genetic
• Molecular Sequence Annotation

Identifiers and source

Literature Corpus work

8a9afd9c-ed87-5928-84ea-b03680b7cae4

DOI

10.1101/828061