A Bayesian framework for efficient and accurate variant prediction.

Abstract excerpt

There is a growing need to develop variant prediction tools capable of assessing a wide spectrum of evidence. We present a Bayesian framework that involves aggregating pathogenicity data across multiple in silico scores on a gene-by-gene basis and multiple evidence statistics in both quantitative and qualitative forms, and performs 5-tiered variant classification based on the resulting probability credible...

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• Area Under Curve
• Bayes Theorem
• Genetic Predisposition to Disease
• Genetic Testing
• Mutation, Missense