ABSTRACT

This chapter introduces basic principles of modern genomic research. It considers more complex associations between genotype and phenotype and reviews the central dogma of molecular biology. The chapter also considers modern genetic research strategies and also reviews some of the "classical" approaches that have provided the foundation of genetics research findings for biomedicine. But given the increasing attention to harmonizing phenotype assessment, along with the increase in number of repositories for collecting genetic and phenotype data, the availability of high-quality association data should grow rapidly. Following the advent of genomics to represent the systematic study of the entire genome, the last 15 years has seen a burgeoning list of "omics" strategies, including proteomics, metabolomics, and connectomics. A fundamental distinction between the phenomics strategy and the more traditional strategy for GWAS is that the latter most often focuses on a "univariate" approach to seeking associations of an individual phenotype with a genome-wide assessment of variation.