Jo Knight

Circumstantial Evidence? Comparison of Statistical Learning Methods using Functional Annotations for Prioritizing Risk Variants

This paper compares statistical learning methods using functional annotations to prioritize risk variants in genome-wide association studies, finding similar predictive accuracies across methods but no significant improvement over existing approaches.

A Bayesian Method to Incorporate Hundreds of Functional Characteristics with Association Evidence to Improve Variant Prioritization

This paper introduces a Bayesian method that integrates functional genomic data with GWAS results to prioritize causal SNPs, showing improved identification of novel hits in psoriasis GWAS.