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

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 phenotyp...

Full description

Saved in:
Bibliographic Details
Published inBMC proceedings Vol. 5 Suppl 9; no. Suppl 9; p. S6
Main Authors Xing, Chuanhua, Satten, Glen A, Allen, Andrew S
Format Journal Article
LanguageEnglish
Published England BioMed Central 29.11.2011
BioMed Central Ltd
Subjects
Data bases
Disease control
Genes
Genetics
Mutation
Proceedings
Standard deviation
Studies
Online AccessGet full text

Cover

More Information
Summary: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.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ObjectType-Article-2
ObjectType-Conference-1
ObjectType-Feature-3
SourceType-Conference Papers & Proceedings-2
ISSN:1753-6561
1753-6561
DOI:10.1186/1753-6561-5-S9-S6