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Activity Number: 357
Type: Invited
Date/Time: Wednesday, August 1, 2007 : 8:30 AM to 10:20 AM
Sponsor: Section on Statistics in Epidemiology
Abstract - #308087
Title: Multilevel Approaches to Genotype-Phenotype Association: VUS Classification and SNP Blocking
Author(s): Giovanni Parmigiani*+ and Edwin Iversen and Xi Zhou and Daniele Fallin and Ingo Ruczinski and Cristian Pattaro
Companies: Johns Hopkins University and Duke University and Cornell University and Johns Hopkins University and Johns Hopkins University and Eurac
Address: Department of Pathology, Oncology and Biostatistics, Baltimore, MD, 21205,
Keywords: variants of unknown significance ; bayesian classification ; hierarchical models ; SNPs
Abstract:

In this lecture I will present two applications of multilevel modeling in the area of genetic association studies. The first deals with determining whether the so-called "variants of unknown significance" on known disease genes are themselves disease-related. The second deals with the common case-control design for genome-wide association studies using SNPs. The common theme of the two applications is to use multilevel models to create, at a "lower" level data summaries that capture salient feature of complex data structures, such as families or structured regions in the genome. These parameters are in turn used as discriminating variables in a classification problem for which the lower level groups are the units.


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Revised September, 2007