title: Pathway-based joint effects analysis of rare genetic variants using Genetic Analysis Workshop 17 exon sequence data.
abstract: Pathway-based analysis has been recently used in joint tests of association between disease and a group of common genetic variants. Here we explore this idea for the joint effects analysis of rare genetic variants and their association with quantitative traits and disease. We accumulate multiple rare minor alleles in a genetic risk score for each individual in a given pathway; this score is then used to assess association with quantitative phenotypes and disease. We demonstrate that this approach may be better than studying single rare variants or a gene risk score for identifying individuals with significantly greater risk.
authors.affiliation: The Centre for Applied Genomics (TCAG) and Program in Genetics and Genome Biology, The Hospital for Sick Children, 101 College Street, Toronto, ON M5G 1L7, Canada. andrew.paterson@utoronto.ca.
authors.forename: Pingzhao
authors.initials: P
authors.lastname: Hu
authors.forename: Wei
authors.initials: W
authors.lastname: Xu
authors.forename: Lu
authors.initials: L
authors.lastname: Cheng
authors.forename: Xiang
authors.initials: X
authors.lastname: Xing
authors.forename: Andrew D
authors.initials: AD
authors.lastname: Paterson