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Table of contents

Genetics and Genomics at the Channing Laboratory: How Bioinformatics Will Change the Future of Epidemiology

Outline

Growth in genomic data (not knowledge)

What is Bioinformatics

Glossary

Innate Immunity

Immunity at the Host/Environment Interface

Scope of Work for the PGA

Task

Slide 10

Slide 11

Slide 12

Lab Information Management System (LIMS)

Slide 14

Slide 15

Slide 16

SNPper (SNP Explorer)

SNPper: First Page

SNPper: Gene Display

SNPper: Sequence Display

SNPper: SNP View

IL10

TLR4

Slide 24

SNP Output Table

Slide 26

IL10 Frequencies

Haplotype Frequencies at IL10 SNPs: Asthmatic (Caucasians)

Slide 29

IL-10 SNP with > 5% RAF Separate Populations

IL10 Genotypes From Case Control Study African American & European American Cases & Controls

Exploring the Framework with Relevance Networks

Construction of Relevance Networks 1

Construction of Relevance Networks 2

Construction of Relevance Networks 3

Construction of Relevance Networks 4

Slide 37

Slide 38

How Does This Apply to Epidemiology

The Future

Faculty of BWH Innate Immunity PGA

Slide 42

Slide 43

Slide 44

Slide 45

Innate Immunity in Diseases of Heart, Lung and Blood

Slide 47

Faculty of U of Arizona/BWH Innate Immunity PGA

PGA University of Arizona & Brigham and Women’s Hospital

Analytical Strategy

Case Control Selection for Association Studies

Association of IL10 SNP Genotypes with Case-Control Status

Educational Activities

Usage Stats

Slide 55

IL-10 SNP with > 5% RAF ALL Samples Combined (not a good idea; n=90)

TLR4 SNP (all - no minimum RAF)

This is more easily viewed in the innateimmunity.net website ! This huge sequence surrounding TLR4 - most of the SNP are between exons outside transcribed areas of the gene.These areas may be important in regulation.

TLR4 SNP (5% minimum RAF)

TLR2 SNP (5% minimum RAF)

TLR9 SNP (5% minimum RAF)

Program in Genomic Applications (PGA)

Linkage Analysis

The New Pharmacology

Genes and Anti-Cancer Agents

Slide 66

Distribution of r^2

Author: Scott T. Weiss, M.D., M.S.

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