Chapter 1 Basic concepts of molecular genetics

The purpose of this chapter is to provide the basic concepts in genetics necessary to the understanding of the Genome-Wide Associations Studies. The first section focuses on the description of the genome, sequencing analysis and introduces the notion of genetic mapping. The second section brings some concepts in population genetics necessary to a good understanding of linkage disequilibrium and association studies. The last section gives the definition of linkage disequilibrium and its origins. This section also explains the notion of haplotype structure, which is a key feature of the human genome that we leveraged with the methodology described in Chapter 4.