ABSTRACT
This chapter is concerned with studies of single phenotypes and conditions that are controlled or can be adjusted for covariates. It describes subject variability on single phenotypes at a molecular level. The chapter aims to study high dimensional data of DNA structure and function of groups of individuals, whose analysis methods show wide consensus. The genome of an individual is the entire DNA content of all the individual’s chromosomes. The simplest and most common structural variants in the genome are single nucleotide polymorphisms (SNPs). Sequencing call of structural variants, therefore, remains an important tool to investigate rare variations and specific genomic architectures, while SNP arrays are most powerful in large studies of common genomic variation. Genome-wide association studies are based on the analysis of genomic data that try to identify SNP variants that are independently associated with differences between population samples. The chapter also presents an overview of the key concepts discussed in this book.
