This is the program for the 2010 Joint Statistical Meetings in Vancouver, British Columbia.

Abstract Details

Activity Number: 681
Type: Contributed
Date/Time: Thursday, August 5, 2010 : 10:30 AM to 12:20 PM
Sponsor: Section on Statistical Computing
Abstract - #309128
Title: Statistical Methods of Exon Resequencing for Detecting Associations with Rare Variants
Author(s): Judy Zhong*+ and Charles Kooperberg
Companies: Sage Bionetworks and Fred Hutchinson Cancer Research Center
Address: , seattle, WA, 98109,
Keywords: Rare Variants ; flexible p-value threshold test ; efficient permutation ; Resequence ; population genetics

Deep sequencing will soon generate comprehensive sequence information in large samples. Although power to detect association with an individual rare variant is limited, pooling variants by gene provides an alternative strategy for identifying susceptibility genes. We used a rigorous population-genetic simulation framework to characterize the allele frequency spectrum of rare variants involved in complex traits and to motivate statistical strategies to identify such alleles. We developed a flexible p-value threshold test that can effectively combine evidence of association over different SNPs. This method optimizes the gene-specific threshold by an efficient permutation algorithm, making it robust with respect to various properties of individual genes. The proposed methods were extensively evaluated and compared with existing methods using population genetic simulations.

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