Copy Number Variation Disorders
Author:
Funder
National Institutes of Health
Publisher
Springer Science and Business Media LLC
Subject
General Medicine
Link
http://link.springer.com/article/10.1007/s40142-017-0129-2/fulltext.html
Reference92 articles.
1. • Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, et al. Detection of large-scale variation in the human genome. Nat Genet. 2004;36:949–51.
2. • Sebat J, Lakshmi B, Troge J, Alexander J, Young J, Lundin P, et al. Large-scale copy number polymorphism in the human genome. Science. 2004;305:525–8. The two studies listed above (1 and 2) were the first to report high levels of copy number variation/polymorphism in the genomes of apparently healthy individuals
3. Conrad DF, Andrews TD, Carter NP, Hurles ME, Pritchard JK. A high-resolution survey of deletion polymorphism in the human genome. Nat Genet. 2006;38:75–81.
4. Feuk L, Carson AR, Scherer SW. Structural variation in the human genome. Nat Rev Genet. 2006;7:85–97.
5. • Kidd JM, Cooper GM, Donahue WF, Hayden HS, Sampas N, Graves T, et al. Mapping and sequencing of structural variation from eight human genomes. Nature. 2008;453:56–64. This study used a novel, clone-based method to detect structural and copy number variations at a higher resolution in eight individuals of diverse geographic ancestry
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