Stanford Continuing Studies

Associating Genes with Disease

Doug Brutlag

Lecture Materials

Genome Wide Association Studies Slide Presentation

Lecture Video

Resources

NIH Symposium on the tenth Anniversary of the Human Genome Sequence

Agenda

Video Link

NHGRI Catalog of Genome Wide Association Studies

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

The Genome Gets Personal - Almost. Feero, Guttmacher and Collins. 2009 JAMA 299, 1351-1352.

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)

The HapMap and Genome-Wide Associations Studies in Diagnosis and Therapy. Teri Manolio and Francis Collins. 2009 Annual Review of MedicineVol. 60, 443-456.

The Case of the Missing Heritability.  Brendan Maher (2008) Nature 456, 18-21.

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

Missing heritability and strategies for finding the underlying causes of complex disease.  Eichler et al. (2010) Nature Reviews 10, 446-450.

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

Third Potential Homework Assignment

•Step 1: Read 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.

•Look at the NHGRI Catalog of Genome Wide association studies to find a disease that is of interest to you.

•When you find a a genome-wide association study on a disease of interest, please look up the paper and report to me 1) the reference of the paper and 2) genes or SNPs that are most highly correlated with the disease. 3) Also please tell me if knowledge of those SNPs or genes sheds any light on the basis for the disease, as we mentioned for Type 2 diabetes in class.

** Web Page Last Updated January 11, 2016**

© Doug Brutlag 2016