Copy number variation: New insights in genome diversity

by: Jennifer L Freeman, George H Perry, Lars Feuk, Richard Redon, Steven A Mccarroll, David M Altshuler, Hiroyuki Aburatani, Keith W Jones, Chris Tyler-Smith, Matthew E Hurles, Nigel P Carter, Stephen W Scherer, Charles Lee

Genome Res., Vol. 16, No. 8. (1 August 2006), pp. 949-961.

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Abstract

DNA copy number variation has long been associated with specific chromosomal rearrangements and genomic disorders, but its ubiquity in mammalian genomes was not fully realized until recently. Although our understanding of the extent of this variation is still developing, it seems likely that, at least in humans, copy number variants (CNVs) account for a substantial amount of genetic variation. Since many CNVs include genes that result in differential levels of gene expression, CNVs may account for a significant proportion of normal phenotypic variation. Current efforts are directed toward a more comprehensive cataloging and characterization of CNVs that will provide the basis for determining how genomic diversity impacts biological function, evolution, and common human diseases. 10.1101/gr.3677206

@article{citeulike:781837, abstract = {DNA copy number variation has long been associated with specific chromosomal rearrangements and genomic disorders, but its ubiquity in mammalian genomes was not fully realized until recently. Although our understanding of the extent of this variation is still developing, it seems likely that, at least in humans, copy number variants (CNVs) account for a substantial amount of genetic variation. Since many CNVs include genes that result in differential levels of gene expression, CNVs may account for a significant proportion of normal phenotypic variation. Current efforts are directed toward a more comprehensive cataloging and characterization of CNVs that will provide the basis for determining how genomic diversity impacts biological function, evolution, and common human diseases. 10.1101/gr.3677206}, author = {Freeman, Jennifer L. and Perry, George H. and Feuk, Lars and Redon, Richard and Mccarroll, Steven A. and Altshuler, David M. and Aburatani, Hiroyuki and Jones, Keith W. and Tyler-Smith, Chris and Hurles, Matthew E. and Carter, Nigel P. and Scherer, Stephen W. and Lee, Charles }, citeulike-article-id = {781837}, doi = {http://dx.doi.org/10.1101/gr.3677206}, journal = {Genome Res.}, keywords = {copy-number-variation, human-variation}, month = {August}, number = {8}, pages = {949--961}, posted-at = {2006-10-27 15:33:17}, priority = {2}, title = {Copy number variation: New insights in genome diversity}, url = {http://dx.doi.org/10.1101/gr.3677206}, volume = {16}, year = {2006} }

RIS record

TY - JOUR ID - citeulike:781837 L3 - citeulike-article-id:781837 TI - Copy number variation: New insights in genome diversity JF - Genome Res. VL - 16 IS - 8 SP - 949 EP - 961 N2 - DNA copy number variation has long been associated with specific chromosomal rearrangements and genomic disorders, but its ubiquity in mammalian genomes was not fully realized until recently. Although our understanding of the extent of this variation is still developing, it seems likely that, at least in humans, copy number variants (CNVs) account for a substantial amount of genetic variation. Since many CNVs include genes that result in differential levels of gene expression, CNVs may account for a significant proportion of normal phenotypic variation. Current efforts are directed toward a more comprehensive cataloging and characterization of CNVs that will provide the basis for determining how genomic diversity impacts biological function, evolution, and common human diseases. 10.1101/gr.3677206 KW - copy-number-variation KW - human-variation AU - Freeman, Jennifer AU - Perry, George AU - Feuk, Lars AU - Redon, Richard AU - Mccarroll, Steven AU - Altshuler, David AU - Aburatani, Hiroyuki AU - Jones, Keith AU - Tyler-Smith, Chris AU - Hurles, Matthew AU - Carter, Nigel AU - Scherer, Stephen AU - Lee, Charles PY - 2006/08/01/ UR - http://dx.doi.org/10.1101/gr.3677206 ER -

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