ABSTRACT
This chapter describes the structure, organization, and inheritance of the human genome. Despite the phenotypic impact of some genetic differences, it is important to appreciate that the vast majority of the many differences between human genome copies have little or no phenotypic effect. The development of high-throughput deoxyribonucleic acid (DNA) sequencing technologies has allowed entire genomes to be sequenced from members of human pedigrees. Gene conversion has a number of consequences for genome evolution and disease. Genomewide analysis shows that gene conversion is generally highly active among highly similar paralogous sequences. Haplotype diversity has been extensively investigated in genomewide-scale population studies, and reveals a block-like structure in which regions of low recombination are punctuated by highly active recombination hotspots. The differences between genomes encompass a wide range of scales: from single nucleotide polymorphisms through to structural variation involving millions of base pairs of DNA sequence.
