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Activity Number: 292
Type: Contributed
Date/Time: Tuesday, July 31, 2007 : 10:30 AM to 12:20 PM
Sponsor: Section on Statistics in Epidemiology
Abstract - #309031
Title: Statistical Methods for Detecting Microdeletions in Genetic Markers
Author(s): Chih-Chieh Wu*+ and Sanjay Shete and Christopher I. Amos
Companies: The University of Texas M.D. Anderson Cancer Center and The University of Texas M.D. Anderson Cancer Center and The University of Texas M.D. Anderson Cancer Center
Address: Department of Epidemiology Unit 1340, Houston, TX, 77030,
Keywords: heterozygosity ; homzygosity ; microdeletion ; Pearson's Chi-Squared test ; run statistic ; statistical test
Abstract:

There is increasing evidence that many human genetic disorders are associated with deletions of DNA sequences in chromosomes. Identified microdeletions range in size from < 1kb to 4Mb. Because the current molecular techniques are not efficient for direct identification of genetic deletions, we have developed marker-based statistical methods for detecting regions of microdeletion using case-control designs. We propose to test for an excess of homozygosity of contiguous genetic markers in patients presenting with a genetic disorder. Our approaches evaluate the frequency of contiguous homozygosity segments in a subject and determine the heterozygosity level at each region among subjects. The sensitivity and power of our proposed methods depend on marker density, allele frequency, and size of microdeletion. We will perform analyses for simulation studies and lung cancer data.


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Revised September, 2007