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Copy Number Variation and Disease (Cytogenetic and Genome Research) download epub

by H. Kehrer-Sawatzki,D.N. Cooper


Epub Book: 1913 kb. | Fb2 Book: 1908 kb.

DOI: 1. 159/000184686 · Source: PubMed.

DOI: 1. Cite this publication. Hildegard Kehrer-Sawatzki.

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Copy number variation (CNV) is a phenomenon in which sections of the genome are repeated and the number of repeats in the genome varies between individuals. Copy number variation is a type of structural variation: specifically, it is a type of duplication or deletion event that affects a considerable number of base pairs

PubMed comprises more than 30 million citations for biomedical literature from MEDLINE, life science journals, and online books. Kehrer-Sawatzki H, Cooper DN. PMID

PubMed comprises more than 30 million citations for biomedical literature from MEDLINE, life science journals, and online books. Cytogenet Genome Res. 2008;123(1-4):5-6. doi: 1. 159/000184686. Copy number variation and disease. PMID: 19287133.

Hildegard Kehrer-Sawatzki, David N. Cooper. Copy number differences between human and chimpanzee genomic sequences often overlap with regions of intraspecies copy number variation.

Copy number variation of microRNA genes in the human genome . Microarray comparative genomic hybridization and cytogenetic characterization of tissue-specific mosaicism in three patients.

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During the past five years, copy number variation (CNV) has emerged as a highly prevalent form of genomic .

During the past five years, copy number variation (CNV) has emerged as a highly prevalent form of genomic variation, bridging the interval between long-recognised microscopic chromosomal alterations and single-nucleotide changes.

Reprint of: Cytogenetic and Genome Research 2008, Vol. 123, No. 1-4 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 Disease (Cytogenetic and Genome Research) download epub
Medicine
Author: H. Kehrer-Sawatzki,D.N. Cooper
ISBN: 3805590938
Category: Medical Books
Subcategory: Medicine
Language: English
Publisher: S. Karger; 1 edition (March 24, 2009)
Pages: 356 pages