Send to

Choose Destination
See comment in PubMed Commons below
Genet Epidemiol. 2011 Jan;35(1):57-69. doi: 10.1002/gepi.20554.

Bayesian analysis of rare variants in genetic association studies.

Author information

  • 1Department of Biostatistics, Section on Statistical Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35294-0022, USA.


Recent advances in next-generation sequencing technologies facilitate the detection of rare variants, making it possible to uncover the roles of rare variants in complex diseases. As any single rare variants contain little variation, association analysis of rare variants requires statistical methods that can effectively combine the information across variants and estimate their overall effect. In this study, we propose a novel Bayesian generalized linear model for analyzing multiple rare variants within a gene or genomic region in genetic association studies. Our model can deal with complicated situations that have not been fully addressed by existing methods, including issues of disparate effects and nonfunctional variants. Our method jointly models the overall effect and the weights of multiple rare variants and estimates them from the data. This approach produces different weights to different variants based on their contributions to the phenotype, yielding an effective summary of the information across variants. We evaluate the proposed method and compare its performance to existing methods on extensive simulated data. The results show that the proposed method performs well under all situations and is more powerful than existing approaches.

[PubMed - indexed for MEDLINE]
Free PMC Article
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for PubMed Central
    Loading ...
    Support Center