The DOI matches its Crossref record; 7 of the 7 references it cites were found in a registry or an index.
Copy number variation: New insights in genome diversity
Open accessAbstract
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.
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The International HapMap Project
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Self-citationDetection of large-scale variation in the human genome
Iafrate, A. J., Feuk, L., Rivera, M. N., Listewnik, M. L., Donahoe, P. K., Qi, Y., Scherer, S. W., & Lee, C. (2004) · Nature Genetics · doi:10.1038/ng1416 · Cited by 2,892
Self-citationCommon deletion polymorphisms in the human genome
McCarroll, S. A., Hadnott, T. N., Perry, G. H., Sabeti, P. C., Zody, M. C., Barrett, J. C., Dallaire, S., Gabriel, S. B., Lee, C., Daly, M. J., et al. (2006) · Nature Genetics · doi:10.1038/ng1696 · Cited by 701
Self-citationDiabetes and obesity: the twin epidemics
Smyth, S., & Heron, A. (2006) · Nature Medicine · doi:10.1038/nm0106-75 · Cited by 643
A genome-wide comparison of recent chimpanzee and human segmental duplications
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Common deletions and SNPs are in linkage disequilibrium in the human genome
Hinds, D. A., Kloek, A. P., Jen, M., Chen, X., & Frazer, K. A. (2006) · Nature Genetics · doi:10.1038/ng1695 · Cited by 372
A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome
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Cited by
Wang, K., Li, M., Hadley, D., Liu, R., Glessner, J., Grant, S. F. A., Hakonarson, H., & Bucan, M. (2007) · Genome Research · doi:10.1101/gr.6861907 · Cited by 1,792
The Diploid Genome Sequence of an Individual Human
Levy, S., Sutton, G., Ng, P. C., Feuk, L., Halpern, A. L., Walenz, B. P., Axelrod, N., Huang, J., Kirkness, E. F., Denisov, G., et al. (2007) · PLoS Biology · doi:10.1371/journal.pbio.0050254 · Cited by 1,778
Self-citationPaired-End Mapping Reveals Extensive Structural Variation in the Human Genome
Korbel, J. O., Urban, A. E., Affourtit, J. P., Godwin, B., Grubert, F., Simons, J. F., Kim, P. M., Palejev, D., Carriero, N. J., Du, L., et al. (2007) · Science · doi:10.1126/science.1149504 · Cited by 1,163
Self-citationCopy number variations and clinical cytogenetic diagnosis of constitutional disorders
Lee, C., Iafrate, A. J., & Brothman, A. R. (2007) · Nature Genetics · doi:10.1038/ng2092 · Cited by 388
Self-citationGenetic association analysis of copy-number variation (CNV) in human disease pathogenesis
Ionita-Laza, I., Rogers, A. J., Lange, C., Raby, B. A., & Lee, C. (2009) · Genomics · doi:10.1016/j.ygeno.2008.08.012 · Cited by 198
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Metadata
- Authors
- Freeman, J. L., Perry, G. H., Feuk, L., Redon, R., McCarroll, S. A., Altshuler, D. M., Aburatani, H., Jones, K. W., Tyler-Smith, C., Hurles, M. E., Carter, N. P., Scherer, S. W., & Lee, C.
- Venue
- Genome Research
- Publisher
- Cold Spring Harbor Laboratory
- Published
- 2006-06-29
- Volume
- 16
- Issue
- 8
- Pages
- 949-961
- ISSN
- 1088-9051 (ISSN-L)
- OpenAlex
- W2102941013
- Cited by
- 857
- References
- 7
- Type
- posted content
- Language
- en
- Open access
- bronze
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- Freeman, J. L., Perry, G. H., Feuk, L., Redon, R., McCarroll, S. A., Altshuler, D. M., Aburatani, H., Jones, K. W., Tyler-Smith, C., Hurles, M. E., Carter, N. P., Scherer, S. W., & Lee, C. (2006). Copy number variation: New insights in genome diversity. Genome Research. https://doi.org/10.1101/gr.3677206
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