참고문헌
- Stranger BE, Forrest MS, Dunning M, Ingle CE, Beazley C, Thorne N, et al. Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science 2007;315:848-853. https://doi.org/10.1126/science.1136678
- Hastings PJ, Lupski JR, Rosenberg SM, Ira G. Mechanisms of change in gene copy number. Nat Rev Genet 2009;10:551-564.
- Beckmann JS, Estivill X, Antonarakis SE. Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability. Nat Rev Genet 2007;8:639-646.
- Lam KW, Jeffreys AJ. Processes of copy-number change in human DNA: the dynamics of {alpha}-globin gene deletion. Proc Natl Acad Sci U S A 2006;103: 8921-8927. https://doi.org/10.1073/pnas.0602690103
- Conrad DF, Hurles ME. The population genetics of structural variation. Nat Genet 2007;39(7 Suppl):S30-S36. https://doi.org/10.1038/ng2042
- Hegele RA. Copy-number variations add a new layer of complexity in the human genome. CMAJ 2007;176:441-442. https://doi.org/10.1503/cmaj.061689
- Wong KK, deLeeuw RJ, Dosanjh NS, Kimm LR, Cheng Z, Horsman DE, et al. A comprehensive analysis of common copy-number variations in the human genome. Am J Hum Genet 2007;80:91-104. https://doi.org/10.1086/510560
- Feuk L, Marshall CR, Wintle RF, Scherer SW. Structural variants: changing the landscape of chromosomes and design of disease studies. Hum Mol Genet 2006;15 Spec No 1:R57-R66. https://doi.org/10.1093/hmg/ddl057
- Tan EC, Loh M, Chuon D, Lim YP. Singapore Human Mutation/Polymorphism Database: a country-specific database for mutations and polymorphisms in inherited disorders and candidate gene association studies. Hum Mutat 2006;27:232-235. https://doi.org/10.1002/humu.20291
- Ruangrit U, Srikummool M, Assawamakin A, Ngamphiw C, Chuechote S, Thaiprasarnsup V, et al. Thailand mutation and variation database (ThaiMUT). Hum Mutat 2008;29:E68-E75. https://doi.org/10.1002/humu.20787
- Yim SH, Kim TM, Hu HJ, Kim JH, Kim BJ, Lee JY, et al. Copy number variations in East-Asian population and their evolutionary and functional implications. Hum Mol Genet 2010;19:1001-1008. https://doi.org/10.1093/hmg/ddp564
- Donlin MJ. Using the generic genome browser (GBrowse). Curr Protoc Bioinformatics 2009;Chapter 9:Unit 9.9.