A weighted accumulation test for associating rare genetic variation with quantitative phenotypes.

Journal Article (Journal Article)

Currently there is a great deal of interest in developing methods for testing the role that rare variation plays in disease development. Here we propose a weighted association test that accumulates genetic variation across a signaling pathway. We evaluate our approach by analyzing simulated phenotype data from an exome sequencing study of 697 unrelated individuals from the Genetic Analysis Workshop 17 (GAW17) data set. Although our weighted approach identifies several interesting pathways associated with phenotype Q1, so does an alternative unweighted accumulation approach. Such a result is not unexpected because there is no systematic relationship between the allele frequency of a variant and its effect on phenotype in the GAW17 simulation model.

Full Text

Duke Authors

Cited Authors

  • Xing, C; Satten, GA; Allen, AS

Published Date

  • November 29, 2011

Published In

Volume / Issue

  • 5 Suppl 9 /

Start / End Page

  • S6 -

PubMed ID

  • 22373271

Pubmed Central ID

  • PMC3287898

Electronic International Standard Serial Number (EISSN)

  • 1753-6561

Digital Object Identifier (DOI)

  • 10.1186/1753-6561-5-S9-S6


  • eng

Conference Location

  • England