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Table of contents

Statistical Methods for Population-Based Association Studies

Outline

Complex trait

Association studies with complex traits

“Variation is the spice of life”

What are we looking for? Case-control data

What are we looking for? Population-based data

“Significant” associations

“Significant” associations?

Applications Test and estimate correlation between phenotype and genetic data

Candidate gene association study

Tests of association: single SNPs

Chi-square tests

Mendel’s Law?

Slide 15

Slide 16

Comparing allele and genotype counts

Stratification

Logistic regression

Logistic regression (cont.)

Incorporation of Covariates

Gene-environment interaction

Slide 23

Additional phenotype distributions

“I’m a statistician and I’m here to help!”

Tests of association: multiple SNPs/haplotypes

Incorporate haplotypic information into association studies

Incorporate haplotypic information into association studies (cont.)

Haplotype frequency comparisons

Haplotype frequency estimation

Methods for haplotype associations

haplo.score

Distribution of traits

Adjusted score test

Posterior weights

Statistical inference for haplo.score

haplo.glm

haplo.glm model

haplo.glm: score function

Slide 40

Statistical inference for haplo.glm

Why analyze haplotypes?

Slide 43

2. Selection of SNPs for genotyping

Identify the “most important” SNPs

4. Test for associations at the SNP and/or haplotype levels

5. Substantiate findings

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Author: Stephen Lake Sc.D.

Homepage: https://innateimmunity.net/

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