Evaluation of relative risk model in PheWAS analysis
Ya-Chen Lisa Lin, PhD Candidate Vanderbilt University
The Phenome-wide association study (PheWAS) has become widely used for efficient, high-throughput evaluation of relationship between a genetic variation and a large collection of clinical diagnoses, typically extracted from a DNA biobank linked with electronic health records (EHR). The case-control analysis has been the standard choice for its efficiency in rare disease analysis and power to identify risk factors. However the clinical diagnoses in EHR are often inaccurate with errors and may cause bias. In the presentation, I will talk about the basic concepts for PheWAS, the most common type of misclassification in PheWAS and current solution to the issue. I will evaluate how well different method perform with the varying degree of the issues.