Copy Number Variation and Disease

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März 2009



Copy number variants (CNVs) are an important source of human genomic diversity. They impact upon a diverse array of specialist fields such as evolutionary biology, predisposition to inherited disease (monogenic and complex), cancer genetics, inter-individual variation in diverse human populations, and somatic mosaicism. The important advances in CNV research that have been made over the last few years have greatly increased the awareness of the extent to which CNVs contribute to the diversity of human phenotypes, including 'single gene defects' and genomic disorders. Indeed, CNVs are now being widely investigated in genome-wide association studies to determine their influence on human disease susceptibility. This special issue comprises a unique collection of review and original articles, which together reflect the current knowledge of CNVs while posing key questions about the structure, function and evolution of this key type of polymorphic variation in the human genome. Thus it is an invaluable source of information for evolutionary biologists as well as for human and cancer geneticists.


Copy Number Variation and Inherited Disease; Copy Number Variation and Complex Disease; Copy Number Variation and Cancer; Copy Number Variation and Pharmacogenetics; Copy Number Variations in Normal Human Populations; Characterization of Copy Number Variations in the Human Genome; Expression Divergence and Copy Number Variation; Copy Number Variations and Evolution; Copy Number Variations in the Genome of Model Organisms; Copy Number Variations: Technology of Detection and Analysis.
EAN: 9783805590938
ISBN: 3805590938
Untertitel: Reprint of: Cytogenetic and Genome Research 2008, Vol. 123, No. 1-4. 109 figures, 62 in color, and 51 tables. Sprache: Englisch.
Verlag: Karger Verlag
Erscheinungsdatum: März 2009
Seitenanzahl: 351 Seiten
Format: gebunden
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