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Genome-Wide Association for the Rest of Us: Introduction and Goals National Human Genome Research Institute National Institutes of Health U.S. Department.

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Presentation on theme: "Genome-Wide Association for the Rest of Us: Introduction and Goals National Human Genome Research Institute National Institutes of Health U.S. Department."— Presentation transcript:

1 Genome-Wide Association for the Rest of Us: Introduction and Goals National Human Genome Research Institute National Institutes of Health U.S. Department of Health and Human Services National Institutes of Health National Human Genome Research Institute Teri A. Manolio, M.D., Ph.D. Senior Advisor to the Director, NHGRI, for Population Genomics Director, Office of Population Genomics June 22, 2007

2 Hokusai, K. The Great Wave 2007: The Year of GWA Studies?

3 Hokusai, K. The Great Wave 2007: The Year of GWA Studies?

4 Hokusai, K. The Great Wave 27May2007 2007: The Year of GWA Studies?

5 Sciencexpress, 3May2007 2007: The Year of GWA Studies?

6 Sciencexpress, 26Apr2007 2007: The Year of GWA Studies?

7 Nature Genetics, 1Apr2007 2007: The Year of GWA Studies?

8 26Oct2006 19Oct2006 10Mar2005 Sciencexpress 2007: The Year of GWA Studies?

9 What is a GWA Study? Method for interrogating all 10 million variable points across human genome Variation inherited in groups, or blocks, so not all 10 million points have to be tested Blocks are shorter (so need to test more points) the less closely people are related Technology now allows studies in unrelated persons, assuming ~10,000 base pair lengths in common (300,000 - 500,000 markers)

10 http://www.broad.mit.edu/diabetes/scandinavs/type2.html Genome-Wide Scan for Type 2 Diabetes in a Scandinavian Cohort

11 Background and Opportunities Understanding of genome structure provides unprecedented opportunities to define genetic contributions to health and disease, particularly in relation to environmental effects Progress in application of genomic knowledge to health somewhat hampered by differences between disciplines: –Genetics/genomics –Population-based epidemiology

12 copy number variants

13 gene deserts

14 copy number variants Bayes Factors HapMap gene deserts

15 copy number variants dbGaP Bayes Factors CEL files inversion HapMap gene deserts calling algorithms

16 copy number variants ancestral markers anonymized gene deserts epistasis dbGaP population stratification Q-Q plots whole genome amplification Bayes Factors calling algorithms P3G Hardy- Weinberg deviation HuGENet IMPUTATION clustering algorithms minor allele frequency CEL files inversion linkage disequilibrium HapMap gene- environment interaction admixture

17 Larson, G. The Complete Far Side. 2003.

18 Structure of Session Bridging epidemiology and genomics (W. Post and D. Nickerson) Design of initial and replication studies (D. Hunter) Genotyping platforms and quality control (E. Pugh) Selection of markers to carry forward (N. Cox) Managing and analyzing data (L. Scott) Promoting collaborations (R. Hoover) Data deposition and access (J. Ostell) Community concerns (D. Levy) Data sharing and collaborations (A. Singleton) Synthesizing findings (M. Gwinn) Best practices, additional research (Panel)

19 A Word from Our Sponsor… http://genesandenvironment.nih.gov/

20 Genes, Environment and Health Initiative (GEI) NIH-wide initiative of the Secretary, HHS Aims to accelerate understanding of genetic and environmental contributions to health and disease Two components: –Genetic analyses of case-control studies of common disease ($26M per year for four years) –Development of innovative technologies to measure environmental exposures, diet, and physical activity ($14M per year for four years)

21 NHGRI Office of Population Genomics http://www.genome.gov/19518660

22 NHGRI Office of Population Genomics Established to facilitate application of genomic knowledge to health, by promoting multi- disciplinary research and applying genomic technologies to population studies Key goal: Support cross-disciplinary training for geneticists and epidemiologists –Multi-IC Symposia on Application of Genomic Technologies to Population Studies –GWA Studies for the Rest of Us –Designing Geneticists (ASHG, October 2007) http://www.genome.gov/19518660

23 Many Thanks to SER… Especially Mike Bracken and Peggy Christensen!

24 Housekeeping Items Videotaping for webarchive at http://genesandenvironment.nih.gov/, please use microphones during discussion sessions http://genesandenvironment.nih.gov/ Two 20-minute breaks and 45-minute lunch Unable to give you lunch, local lunch list provided Homework: Closing discussion on best practices and research/tools needed will be of great value to NHGRI and GEI, perhaps SER Speakers selected for their laid-back genes, ask if you need to know something to go further There are no stupid questions!

25 Larson, G. The Complete Far Side. 2003.

26 Watch for PowerPoints and Video http://genesandenvironment.nih.gov/

27 Larson, G. The Complete Far Side. 2003.

28

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