Strategies and Resources for Marker Selection and Genotyping in Genetic Association Studies

The release of millions of polymorphisms by recently completed, large- scale sequencing and genotyping efforts has provided us with unprecedented resources for carrying out genetic association analyses of drug response and disease predisposition. This chapter provides a guide to some general principles and available resources for the analysis of human genetic variation in genetic association studies. We first describe some principles of association studies and discuss the utility of different experimental designs in clinical practice. We then describe current repositories of human genetic variation and bioinformatics tools that have been developed for the efficient retrieval and evaluation of these genetic variants in the context of human genome annotation and disease. Finally, we survey pros and cons of current genotyping methodologies and available commercial products for genetic association studies.