niehs snps workshop introduction debbie nickerson department of genome sciences
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NIEHS SNPs Workshop Introduction Debbie Nickerson Department of Genome Sciences University of Washington. - PowerPoint PPT PresentationTRANSCRIPT
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NIEHS SNPs Workshop
Introduction
Debbie Nickerson
Department of Genome Sciences
University of Washington
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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
EnvironmentPrecursor of Many Projects:
NHGRI - Variation Discovery and HapMapPerlegen
100s of publications using the resources
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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
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NIEHS SNPs - Debbie Nickerson, Mark Rieder (University of Washington)
GeneSNPs - Bob WeissAndrew von Niederhausern
(University of Utah)
TraFaC + PolyDom- Bruce AronowAnil Jegga
(Children's Hospital Medical Center,University of Cincinnati)
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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
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• 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 13 X
> 2% of Genes
Mark Rieder
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Pathways
Mismatch repair
Double strand break repair
Apoptosis
Cell cycle
Transcription coupled repair
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Workshop Faculty
Dana Crawford, Ph.D.
Mark Rieder, Ph.D
Debbie Nickerson, Ph.D.
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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
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Day 2:
Interactive Tutorial: Web Tools for SNP SelectionAll
SNP GenotypingDebbie Nickerson
Association AnalysisDana Crawford
Medical ResequencingMark Rieder
NIEHS SNPs Workshop Agenda
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Ken Ramos - Director, UofL CGeMM Ted Kalbfleish - Director of
Bioinformatics Operations, UofL CGeMM
Eric Torskey - UW
Liz Maull - NIEHS
NIEHS-ES-15478
Many Thanks!
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