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© Oxford University Press, 2013. This book describes the remarkable progress which has been made in defining the extent and nature of human genetic variation, and its many consequences for us as individuals and in understanding human origins. A mix of cutting-edge and landmark studies are reviewed to provide an overview of the field combined with in-depth analysis of specific informative examples to show how progress has been achieved and likely future directions. The major classes of genetic variation are described, ranging from chromosomal level variation, to submicroscopic structural variation, to fine scale sequence level variation. The substantial progress achieved in defining the genetic basis of diseases is described for both diseases showing Mendelian inheritance and common multifactorial diseases. Efforts to catalogue human genetic variation, insights into genomic disorders, the role of copy number variation, segmental duplications and tandem repeats are highlighted together with progress which has lead to recent success with genome-wide association studies. Other chapters highlight the genetics of gene expression, evidence of selection and susceptibility to diseases such as malaria and HIV infection. Human genetic variation has implications across a broad range of disciplines and this text aims to consolidate work in diverse fields to highlight common themes and principles. To facilitate this the basic principles of human molecular genetics are described throughout the text, which is extensively illustrated.

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