Biochemistry 158/258

A Human Genome Stained by Fluourescent in Situ Hybridization

Genomics, Bioinformatics & Medicine

Doug Brutlag

Genome-Wide Association Project

Read Thomas A. Pearson; Teri A. Manolio (2008) How to Interpret a Genome-wide Association Study. JAMA, March 19, 2008; 299: 1335 - 1344.

Please search either PubMed or Google Scholar or the GWAS Catalog for a multifactorial disease of interest to you. To help you with the PubMed search, "Genome-Wide Association Study" is a defined MeSH term so your search can look like this: '"Genome-Wide Association Study”[MaJR] AND Disease-name-or-Disease-MeSH-term

For Google Scholar you will have to do two searches, one with the phrase "Genome-Wide Association Study" AND disease-name and another search for "GWAS AND disease-name”.

Read the papers that have performed genome-wide association studies on your disease of interest. Please write a 4 page summary of the genome-wide association studies on your disease of interest. Please include the following information in your summary and the implication of each observation:

1) The URL or UID of the papers you read.

2) A description of the study including the population or ethnic group involved, whether it is a case/control study or a cohort study or a study of trios, the number of patients and controls examined, any stratification that was performed, the number of SNPs examined and any other information about the study that is critical for its interpretation.

3) A paragraph describing the genes and/or the SNPs that are most highly correlated with the disease. You should examine the function of each gene in the NCBI Gene database or the UniProt Protein Database and report any functions (gene ontology terms) that may be relevant to the disease.

4) The odds ratio and heritability of each SNP correlation if given. If not, state that the data was not present.

5) Report if the association studies been repeated in different laboratories, or different populations or subpopulation or ethnic groups?

6) Report of any causal mutations been detected or suggested from any of the data?

7) Also please report if knowledge of those SNPs or genes sheds any light on the molecular basis for the disease.

Please remember that this is a research report, not a list of short answers. You should write full paragraphs on each of the topics above.

© Doug Brutlag 2015