Table of contents

Slide 1

Slide 2

Overview of Complex Trait Genetics

Slide 4

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

Phenotype-genotype association

Linkage Analysis

Linkage vs. Association Analysis

Slide 9

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 13

Slide 14

Genotypes in Genetic Epidemiology

Positional Cloning vs. Candidate Gene Approaches in Complex Diseases

Haplotypes in Gene Localization

Reduction in Linkage Disequilibrium Across Generations

Haplotype Determination Options

Analytical Issues in Genetic Association Studies

Unit of Analysis in Genetic Association Studies

Slide 22

Data Manipulation in Genetic Association Studies

Statistical Testing in Genetic Association Studies

Determination of Effect Size in Genetic Association Studies

Slide 26

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 30

Population Stratification in Genetic Association Studies

Multiple Comparisons

Slide 33

Slide 34

Power to Detect Association: TDT vs. Case-Control (McGinnis et al., 2002)

Case-Control vs. TDT: Sample Size Estimates

Case-Control vs. TDT: Mode of Inheritance and Sample Size

Power Considerations in Case-Control vs. TDT Association Analysis

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

Homepage: https://innateimmunity.net/

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