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References
Manolio, T. A., Collins, F. S., Cox, N. J., Goldstein, D. B., Hindorff, L. A., Hunter, D. J. et al. Finding the missing heritability of complex diseases. Nature. 461, 747–753 (2009).
Redon, R., Ishikawa, S., Fitch, K. R., Feuk, L., Perry, G. H., Andrews, T D. et al. Global variation in copy number in the human genome. Nature. 444, 444–454 (2006).
Almal, S. H. & Padh, H. Pharmacogenetics: implication of gene copy number variation. J. Hum. Genet. 57, 6–13 (2012).
Horev, G., Ellegood, J., Lerch, J. P., Son, Y- E. E., Muthuswamy, L., Vogel, H. et al. Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism. Proc. Natl Acad. Sci. USA. 108, 17076–81 (2011).
Johansson, I. & Ingelman-Sundberg, M. CNVs of human genes and their implication in pharmacogenetics. Cytogenet. Genome. Res. 123, 195–204 (2008).
Conrad, D. F., Pinto, D., Redon, R., Feuk, L., Gokcumen, O., Zhang, Y. et al. Origins and functional impact of copy number variation in the human genome. Nature. 464, 704–712 (2010).
The Wellcome Trust Case Control Consortium. Genome-wide association study of CNVs in 16 000 cases of eight common diseases and 3000 shared controls. Nature. 464, 713–720 (2010).
Conrad, D. F., Bird, C., Blackburne, B., Lindsay, S., Mamanova, L., Lee, C. et al. Mutation spectrum revealed by breakpoint sequencing of human germline CNVs. Nat. Genet. 42, 385–391 (2010).
Sudmant, P. H., Kitzman, J. O., Antoncacci, F., Alkan, C., Malig, M., Tsalenko, A. et al. Diversity of human copy number variations and multicopy genes. Science. 330, 641–646 (2010).
Mills, R. E., Walter, K., Stewart, C., Handsaker, R. E., Chen, K., Alkan, C. et al. Mapping copy number variation by population-scale genome sequencing. Nature. 470, 59–65 (2011).
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Kaname, T. A commentary on Implication of gene copy number variation in health and diseases. J Hum Genet 57, 79–80 (2012). https://doi.org/10.1038/jhg.2011.140
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DOI: https://doi.org/10.1038/jhg.2011.140
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