Physical Sciences and Mathematics Commons^™

Pathway Analysis Approaches For Rare And Common Variants: Insights From Genetic Analysis Workshop 18, Stella Aslibekyan, Marcio Almeida, Nathan L. Tintle

Faculty Work Comprehensive List

Pathway analysis, broadly defined as a group of methods incorporating a priori biological information from public databases, has emerged as a promising approach for analyzing high-dimensional genomic data. As part of Genetic Analysis Workshop 18, seven research groups applied pathway analysis techniques to whole-genome sequence data from the San Antonio Family Study. Overall, the groups found that the potential of pathway analysis to improve detection of causal variants by lowering the multiple-testing burden and incorporating biologic insight remains largely unrealized. Specifically, there is a lack of best practices at each stage of the pathway approach: annotation, analysis, interpretation, and follow-up. …