Identifying Genetic Variants That Regulate Gene Expression: How to Ensure Reproducibility

• Activity Number: 19
• Type: Topic Contributed
• Date/Time: Sunday, August 9, 2015 : 2:00 PM to 3:50 PM
• Sponsor: Section on Bayesian Statistical Science
• Author(s): Chiara Sabatti*
• Companies: Stanford University
• Keywords: eQTL ; FDR

Abstract

In eQTL studies, mRNA is sequenced to obtain measurements of expression for tens of thousands of genes and DNA is genotyped (sequenced) to identify variants. Statistical methods are then called upon to identify which genetic variants influence expression. Among the many challenges, we here focus on guarantees of reproducibility of the findings. False discovery rate is a natural criteria in this context, adopting both a frequentist or a Bayesian view point. However, vanilla applications of FDR controlling procedures lead to unexpected and unsatisfactory results: we will illustrate this phenomenon and propose alternative approaches that overcome these difficulties.