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Human Genetic Diversity – Functional Consequences for Health and Disease - Oxford Scholarship Online
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Human Genetic Diversity: Functional Consequences for Health and Disease

Julian C. Knight


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 ... More

Keywords: human genetic variation, human origins, chromosomal level variation, submicroscopic structural variation, fine scale sequence, diseases, Mendelian inheritance, multifactorial diseases, genomic disorders, segmental duplications

Bibliographic Information

Print publication date: 2009 Print ISBN-13: 9780199227693
Published to Oxford Scholarship Online: September 2009 DOI:10.1093/acprof:oso/9780199227693.001.0001


Affiliations are at time of print publication.

Julian C. Knight, author
Wellcome Trust Centre for Human Genetics, University of Oxford, UK