Copy number variation: new insights in genome diversity.

By J. Freeman, G. Perry, L. Feuk, R. Redon, Steven A. McCarroll, David Altshuler, H. Aburatani, K. W. Jones, Chris Tyler-Smith, Matthew E. Hurles and 3 more. Genome Research, 2006

879 citations recorded by the source corpus.

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.

Subfields: Genetics, Plant Science

View Paper: https://www.semanticscholar.org/paper/43849d782a1e8335a114e4c3e3b8b93b4c107d3a

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Citations in the corpus

Empirical comparison of ab initio repeat finding programs (2008, background): “Whole-genome sequencing and re-sequencing have revealed considerably greater variation in gene copy numbers between and within species than previously thought (41).”
PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. (2007, background): “…studies have reported the presence of copy number variation in humans, suggesting that CNVs may account for a significant proportion of human phenotypic variation, including disease susceptibility (Feuk et al. 2006; Freeman et al. 2006; Eichler et al. 2007; McCarroll and Altshuler 2007).”
High-resolution mapping of copy-number alterations with massively parallel sequencing (2008, background): “Germline copy-number variants can be used for phenotypic mapping in genome-wide association studies and have been linked to various disease”
High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. (2009, background): “In addition to their direct correlation with genetic disorders, CNVs are known to mediate phenotypic changes that can be deleterious (Feuk et al. 2006; Freeman et al. 2006).”
The Diploid Genome Sequence of an Individual Human (2007, neutral): “sequences (indels) or large-scale structural variants [10–15]”
Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives (2013, background): “CNV refers to a type of intermediate-scale SVs with copy number changes involving a DNA fragment that is typically greater than one kilobases (Kb) and less than five megabases (Mb) [2].”
Fast Computation and Applications of Genome Mappability (2012, background): “…appearing at different levels of resolution [13] – from large structural variants, including segmental duplications [14], to copy number variations [15], long and short interspersed repeats, paralogous gene families, pseudogenes, and modular domains appearing within the sequence of functionally…”