Genome structural variation discovery and genotyping
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics,Molecular Biology
Link
http://www.nature.com/articles/nrg2958.pdf
Reference116 articles.
1. Iafrate, A. J. et al. Detection of large-scale variation in the human genome. Nature Genet. 36, 949–951 (2004). The first report of CNVs in the human genome using array CGH.
2. Redon, R. et al. Global variation in copy number in the human genome. Nature 444, 444–454 (2006).
3. Tuzun, E. et al. Fine-scale structural variation of the human genome. Nature Genet. 37, 727–732 (2005). The first study to implement a paired-end sequencing approach to study structural variation.
4. Kidd, J. M. et al. Mapping and sequencing of structural variation from eight human genomes. Nature 453, 56–64 (2008).
5. Conrad, D. F. et al. Origins and functional impact of copy number variation in the human genome. Nature 464, 704–712 (2010). This study represents the first application of an ultra-high-density CGH array.
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