|
Activity Number:
|
406
|
|
Type:
|
Topic Contributed
|
|
Date/Time:
|
Wednesday, August 5, 2009 : 8:30 AM to 10:20 AM
|
|
Sponsor:
|
Section on Statistics in Epidemiology
|
| Abstract - #304833 |
|
Title:
|
Analysis of Copy Number Variations in Genome-Wide Association Studies
|
|
Author(s):
|
Mingyao Li*+
|
|
Companies:
|
University of Pennsylvania
|
|
Address:
|
213 Blockley Hall, School of Medicine, Philadelphia, PA, 19103,
|
|
Keywords:
|
CNV ; GWAS ; SNP
|
|
Abstract:
|
Comprehensive identification of copy number variations (CNVs) is required for a complete view of human genetic variation. The resolution of CNV detection in previous experimental designs has been limited to tens or hundreds of kilobases. The availability of high-density SNP genotyping data from genome-wide association studies enables the detection of CNVs with kilobase-resolution. In this talk, I will present PennCNV, a hidden Markov model based approach for detection of CNVs from Illumina and Affymetrix high-density SNP genotyping data. This algorithm incorporates multiple sources of information, including total signal intensity and allelic intensity ratio at each SNP, the distance between neighboring SNPs, the allele frequency of SNPs, and the pedigree information where available. I will also discuss the issue of genomic waves and a computational approach that reduces the wave effect.
|
- The address information is for the authors that have a + after their name.
- Authors who are presenting talks have a * after their name.
Back to the full JSM 2009 program |
