Table of contents

Candidate Genes, SNPs, Haplotypes, and Linkage Disequilibrium

Outline

Candidate Genes

Candidate Gene

Whole Genome Scan

Fine Mapping Linkage Analysis

Candidate Genes

Single Nucleotide Polymorphisms (SNPs)

Single Nucleotide Polymorphism

Single Nucleotide Polymorphisms (SNPs)

PowerPoint Presentation

Slide 12

Slide 13

Functional Consequences of SNPs

Slide 15

Slide 16

Candidate Gene Association Studies

Haplotypes

HAPLOTYPE

Linkage Disequilibrium (LD)

Linkage Disequilibrium (LD)

Slide 22

What is LD?

How Does LD Occur?

Slide 25

Linkage vs. Linkage Disequilibrium

Measures of Linkage Disequilibrium

LD Measures: D

D and D’

Slide 30

r2

Slide 32

Slide 33

r2 and Statistical Power

Factors Associated with Linkage Disequilibrium

Decay of Linkage Disequilibrium

Factors Affecting Linkage Disequilibrium

Slide 38

Practical Applications

Slide 40

Haplotypes and Linkage Disequilibrium

Haplotype-tagging SNPs (htSNPs)

Slide 43

Genome-wide Scans for Association Studies

Author: Juan C. Celedón, M.D., Dr.P.H.

Homepage: https://innateimmunity.net/

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