Document Type
Conference Proceeding
Publication Date
6-17-2014
Department
Mathematics, Statistics, and Computer Science
Keywords
single-nucleotide variants, analysis, single-marker approaches, multiple-marker approaches
Abstract
Until very recently, few methods existed to analyze rare-variant association with binary phenotypes in complex pedigrees. We consider a set of recently proposed methods applied to the simulated and real hypertension phenotype as part of the Genetic Analysis Workshop 18. Minimal power of the methods is observed for genes containing variants with weak effects on the phenotype. Application of the methods to the real hypertension phenotype yielded no genes meeting a strict Bonferroni cutoff of significance. Some prior literature connects 3 of the 5 most associated genes (p <1 × 10−4) to hypertension or related phenotypes. Further methodological development is needed to extend these methods to handle covariates, and to explore more powerful test alternatives.
Source Publication Title
BMC Proceedings
Volume
8
Issue
Supplement 1
First Page
S36
DOI
10.1186/1753-6561-8-S1-S36
Recommended Citation
Hainline et al.: Evaluation of the power and type I error of recently proposed family-based tests of association for rare variants. BMC Proceedings 2014 8(Suppl 1):S36.
Included in
Genetics and Genomics Commons, Medicine and Health Sciences Commons, Statistics and Probability Commons
Comments
From Genetic Analysis Workshop 18, Stevenson, WA, USA. 13-17 October 2012.