Biochemistry 118

Sophomore Seminar


Genomics & Medicine

Genome Wide Association Studies

Doug Brutlag

Seminar Resources

Genome Wide Association Studies Slides

GWAS Catalog

Other Presentations

A Decade with the Human Genome Sequence

YouTube Webcast

Emmanuel Mignon GWAS for Narcolepsy in Children Grand Rounds

Recent Literature References

Other Literature References

How to Use an Article About Genetic Association: A: Background Concepts John Attia; John P. A. Ioannidis; Ammarin Thakkinstian; et al. JAMA. 2009;301(1):74-81

How to Interpret a Genome-wide Association Study. Thomas A. Pearson; Teri A. ManolioJAMA. 2008;299(11):1335-1344

Human genetics: Hit or Miss Chi, K. R. Nature 461, 712-714 (2009).

The Genomics Gold Rush. Eric J. Topol; Sarah S. Murray; Kelly A. Frazer JAMA. 2007;298(2):218-221

The Genome Gets Personal: Almost. W. Gregory Feero; Alan E. Guttmacher; Francis S. Collins JAMA. 2008;299(11):1351-1352

Mapping Genes for NIDDM: Design of the Finland–United States Investigation of NIDDM Genetics(FUSION) Study. Valle et al. DIABETES CARE, VOLUME 21, NUMBER 6, JUNE 1998

Romeo, et al.(2008) Genetic Variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease. Nature Genetics 40, 1461-1465,

The Wellcome Trust Case Control Consortium.  Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared control.  Nature 447, 661-678 (7 June 2007)

Manolio, T.A. et. al.,(2009) Finding the missing heritability of complex diseases. Nature 461, 747-753.

Dickson, S. P.. et al. (2010) Rare Variants Create Synthetic Genome-Wide Associations. PLOS Biology 8, 1-12.

Johansen et al. (2010) Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridema. Nature Genetics 42, 684-7.

Genetic Heterogeneity in Human Disease. McCellan and King. 2010

Lectures Available only to Stanford Students

Henry Stewart Talks

Statistical Methods for the Analysis of Genome-Wide Association Studies

Practical advice and guidance

Designing a genome-wide association study (31 mins Dr. Chris Spencer  –  University of Oxford, UK

Genotyping algorithms for genome wide association studies (49 mins)  Dr. Vincent Plagnol  –  University of Cambridge, UK

Quality control measures for GWAS (20 mins)  Dr. Jeffrey Barrett  –  University of Cambridge, UK

Statistical tests for association (35 mins)  Dr. Andrew Morris  –  University of Oxford, UK

Population structure in genome-wide association studies (32 mins)  Dr. Dan Davison  –  University of Oxford, UK

Imputing genotypes in genome-wide association studies (20 mins)  Dr. Jonathan Marchini  –  University of Oxford, UK

Assessing significance in genome-wide studies (58 mins)  Dr. David Evans  –  University of Bristol, UK

Copy number variation and association studies (31 mins)  Dr. Don Conrad  –  Wellcome Trust Sanger Institute, Cambridge, UK

Meta-analysis in genome-wide association studies: application to type 2 diabetes (27 mins)  Dr. Eleftheria Zeggini  –  University of Oxford, UK