Mutational and selective effects on copy-number variants in the human genome.

@article{citeulike:1629604, abstract = {Comprehensive descriptions of large insertion/deletion or segmental duplication polymorphisms (SDs) in the human genome have recently been generated. These annotations, known collectively as structural or copy-number variants (CNVs), include thousands of discrete genomic regions and span hundreds of millions of nucleotides. Here we review the genomic distribution of CNVs, which is strongly correlated with gene, repeat and segmental duplication content. We explore the evolutionary mechanisms giving rise to this nonrandom distribution, considering the available data on both human polymorphisms and the fixed changes that differentiate humans from other species. It is likely that mutational biases, selective effects and interactions between these forces all contribute substantially to the spectrum of human copy-number variation. Although defining these variants with nucleotide-level precision remains a largely unmet but critical challenge, our understanding of their potential medical impact and evolutionary importance is rapidly emerging.}, address = {Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA. coopergm@u.washington.edu}, author = {Cooper, G. M. and Nickerson, D. A. and Eichler, E. E. }, citeulike-article-id = {1629604}, doi = {http://dx.doi.org/10.1038/ng2054}, issn = {1061-4036}, journal = {Nat Genet}, keywords = {cnv, genome, human, ld}, month = {July}, number = {7 Suppl}, posted-at = {2008-10-08 14:39:07}, priority = {2}, title = {Mutational and selective effects on copy-number variants in the human genome.}, url = {http://dx.doi.org/10.1038/ng2054}, volume = {39}, year = {2007} }

TY - JOUR ID - citeulike:1629604 L3 - citeulike-article-id:1629604 N2 - Comprehensive descriptions of large insertion/deletion or segmental duplication polymorphisms (SDs) in the human genome have recently been generated. These annotations, known collectively as structural or copy-number variants (CNVs), include thousands of discrete genomic regions and span hundreds of millions of nucleotides. Here we review the genomic distribution of CNVs, which is strongly correlated with gene, repeat and segmental duplication content. We explore the evolutionary mechanisms giving rise to this nonrandom distribution, considering the available data on both human polymorphisms and the fixed changes that differentiate humans from other species. It is likely that mutational biases, selective effects and interactions between these forces all contribute substantially to the spectrum of human copy-number variation. Although defining these variants with nucleotide-level precision remains a largely unmet but critical challenge, our understanding of their potential medical impact and evolutionary importance is rapidly emerging. IS - 7 Suppl JF - Nat Genet SN - 1061-4036 AD - Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA. coopergm@u.washington.edu TI - Mutational and selective effects on copy-number variants in the human genome. VL - 39 KW - cnv KW - genome KW - human KW - ld AU - Cooper, GM AU - Nickerson, DA AU - Eichler, EE PY - 2007/07// UR - http://dx.doi.org/10.1038/ng2054 ER -