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Overview of Complex Trait Genetics

Some challenges

Some challenges - continued

Slide 6

Genetic Association Studies: Family-Based vs. Case-Control vs. Population-Based

Phenotype-genotype association

Linkage Analysis

Linkage vs. Association Analysis

Genetic Architecture and Mapping Strategy

Complex Disease Genetic Architecture: Study Design Issues

Phenotype Issues in Complex Disease Genetics

Case-Control Association Study of COPD: TNFA -308 SNP (Huang, Su, and Chang, 1997)

Slide 15

Slide 16

Genotypes in Genetic Epidemiology

Haplotypes in Gene Localization

Reduction of Ancestral Haplotype Across Generations

Haplotype Determination Options

Analytical Issues in Genetic Association Studies

Unit of Analysis in Genetic Association Studies

Unit of Analysis in Genetic Association Studies

Single-marker Logistic Regression

Data Manipulation in Genetic Association Studies

Statistical Testing in Genetic Association Studies

Determination of Effect Size in Genetic Association Studies

Slide 28

Case-Control Association Studies in COPD: Potential Causes of Inconsistent Results

Population Stratification

Association Between Diabetes Mellitus and Haplotype Gm 3;5,13,14 among Residents of Gila River Indian Community (Knowler et al. 1988)

Slide 32

Population Stratification in Genetic Association Studies

Multiple testing

Case-Control vs. TDT: Sample Size for Genome-wide Association Studies (McGinnis et al., Behav Genet 2002; 32:135)

Case-Control vs. TDT: Mode of Inheritance and Sample Size (McGinnis et al., Behav Genet 2002; 32:135)

Power Considerations in Case-Control vs. TDT Association Analysis

Slide 38

Slide 39

Author: Edwin K. Silverman, M.D., Ph.D.

E-mail:

Homepage: http://innateimmunity.net/

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