1. NIEHS SNPs Workshop Introduction Debbie Nickerson Department of Genome Sciences University of Washington

2. In 1997, Dr. Kenneth Olden, then Director of the National Institute of Environmental Health Sciences (NIEHS), convened a historic conference titled “The Environmental Genome Project” October 17-18 in Bethesda, Maryland Bold Concept: EGP - Focus on Association Analysis and Environment Precursor of Many Projects: NHGRI - Variation Discovery and HapMap Perlegen 100s of publications using the resources

3. The EGP is a multi-component project comprised of research in four areas: human DNA polymorphism discovery functional analysis of DNA polymorphism population-based epidemiology studies technology development

4. NIEHS SNPs - Debbie Nickerson, Mark Rieder (University of Washington) GeneSNPs - Bob Weiss Andrew von Niederhausern (University of Utah) TraFaC + PolyDom- Bruce Aronow Anil Jegga (Children's Hospital Medical Center, University of Cincinnati)

5. Goals for NIEHS SNPs: To identify common sequence variation in genes and pathways that underlie environmental responses To provide a variation resource for investigators examining the relationships between environmental exposures, inter-individual sequence variation in human genes and disease risk http://egp.gs.washington.edu

6. Variation discovery complete on 626 genes, more than 15 MB of reference sequence More than 90,000 SNPs identified and genotyped in 90-95 samples; 8.1 million genotypes available Only 50% of the discovered SNPs previously described New views being generated to simplify and enhance use by the community Overview: Chromosome 1 3 X > 2% of Genes Mark Rieder

7. Pathways Mismatch repair Double strand break repair Apoptosis Cell cycle Transcription coupled repair

8. Workshop Faculty Dana Crawford, Ph.D. Mark Rieder, Ph.D Debbie Nickerson, Ph.D.

9. NIEHS SNPs Workshop Agenda Day 1: SNP Resources I and II Mark Rieder and Debbie Nickerson Interactive Tutorial: Using NIEHS Database Resources All SNP Selection Dana Crawford

10. Day 2: Interactive Tutorial: Web Tools for SNP Selection All SNP Genotyping Debbie Nickerson Association Analysis Dana Crawford Medical Resequencing Mark Rieder NIEHS SNPs Workshop Agenda

11. Ken Ramos - Director, UofL CGeMM Ted Kalbfleish - Director of Bioinformatics Operations, UofL CGeMM Eric Torskey - UW Liz Maull - NIEHS NIEHS-ES-15478 Many Thanks!