PGA SNP Selection

July 16, 2002


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Table of Contents

SNPs in Assoication Studies

Why Association Studies

Confounding Effects

Association Study Designs

Epidemiology 101

Relative Risk (RR)

Odds Ratio (OR)

Odds Ratios and Relative Risk

Genetic Relative Risk

Risk Allele Example: 10% Population Frequency

Power analysis

Small sample: 50% Power

Maximizing Power

Large sample: 97.5% Power

Power to Detect SNP Risk: 200 Cases, 200 Controls

Power to Detect RR=2: N Cases, N Controls

Power Analysis Summary

SNP Selection for Association Studies

SNP Association

Linkage Disequilibrium

Linkage Disequilibrium

Hill's Alorithm

r2

D'

Perfect Linkage Disequilibrium

Complete Linkage Disequilibrium

LD in CSF3

Parameters for SNP Selection

Focus on Common Variants - Haplotype Patterns

Why Common Variants?

LD and Power

Power Model

Statistical Power and LD

Power and LD

Power and LD

LD Site Selection Algorithm

CSF3 Site Selection

Summary

Author: Chris Carlson

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