Genomic studies of human populations: Resequencing approaches to the identification of human quantitative loci

Abstract

In this chapter, we explore resequencing approaches to identify the quantitative loci in human populations. We will discuss why sequencing studies are optimal for variant discovery for common complex disease and how we go about localizing and identifying these causal variants. There are several different sequencing applications available to us today ranging from RNA sequencing to targeted genomic sequencing and extending to whole genome sequencing. We explore each of these applications and their individual utilities. Further, we explore studies of complex pedigrees compared to unrelated individuals, the two most common study designs used for human complex disease.