The views expressed here are those of the individual authors and not necessarily those of the JSM sponsors, their officers, or their staff.
Abstract Details
Activity Number:
|
485
|
Type:
|
Invited
|
Date/Time:
|
Wednesday, August 3, 2011 : 10:30 AM to 12:20 PM
|
Sponsor:
|
Statistics in Biopharmaceutical Research Journal
|
Abstract - #300452 |
Title:
|
Investigating Identity Matching in GWAS: Potholes in the Path to Personalized Medicine
|
Author(s):
|
J. Richard Landis*+
|
Companies:
|
University of Pennsylvania
|
Address:
|
School of Med., Department of Biostatistics & Epidemiology, Philadelphia, PA, 19104-6021,
|
Keywords:
|
forensic biostatistics ;
category-specific intraclass correlation ;
identity misalignment ;
categorical data ;
agreement statistics
|
Abstract:
|
This talk will illustrate the use of forensic biostatistics methods to investigate identity mis-alignment of genotype to phenotype data. Within a multicenter clinical research network, n=3,668 participants with genetic testing consent were selected for genotyping. Alerted by PID mismatches of duplicate SNP data, category-specific intraclass correlation coefficients (Landis et al 2010) comparing self-reported and genetically-inferred race were implemented within subsets of PIDs known to have been processed separately, and the presence of non-random clustering of race disagreement patterns was discovered on selected genotyping plates. Well established associations between HDL-C and CETP gene SNPs were shown to be seriously attenuated (approx. 20%) within race subgroups. A subsequent GWAS fingerprinting sub-study, focusing on 24 identity SNPs common to both studies, permitted realignment of these identities, so that discovery and validation research could proceed. Because of the confounding of race in HDL-C and SNP associations, these results illustrate the major impact that identity mis-alignment can have on biomarker discovery and/or validation.
|
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 2011 program
|
2011 JSM Online Program Home
For information, contact jsm@amstat.org or phone (888) 231-3473.
If you have questions about the Continuing Education program, please contact the Education Department.