Rapid progress in genotyping technologies, including the scaling up of assay technologies to genome-wide levels and next generation sequencing, has motivated a burst in methods development and application to detect genotype-phenotype associations in a wide array of diseases and other phenotypes. In this chapter, the authors review the study design and genotyping options that are used in association mapping, along with the appropriate methods to perform mapping within these study designs. The authors discuss both candidate gene and genome-wide studies, focused on DNA level variation. Quality control, genotyping technologies, and single-SNP and multiple-SNP analyses have facilitated the successes in identifying numerous loci influence disease risk. However, variants identified have generally explained only a small fraction of the heritable component of disease risk. The authors discuss emerging trends and future directions in performing analysis for rare variants to detect these variants that predict these traits with more complex etiologies.
Case-only genome-wide interaction study of disease risk, prognosis and treatment