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Systematic prediction and validation of breakpoints associated with copy-number variants in the human genome

Copy-number variants (CNVs) are an abundant form of genetic variation in humans. However, approaches for determining exact CNV breakpoint sequences (physical deletion or duplication boundaries) across individuals, crucial for associating genotype to phenotype, have been lacking so far, and the vast...

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Main Authors: Korbel, Jan O., Urban, Alexander Eckehart, Grubert, Fabian, Du, Jiang, Royce, Thomas E., Starr, Peter, Zhong, Guoneng, Emanuel, Beverly S., Weissman, Sherman M., Snyder, Michael, Gerstein, Mark B.
Format: Artigo
Jezik:Inglês
Izdano: National Academy of Sciences 2007
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1891248/
https://ncbi.nlm.nih.gov/pubmed/17551006
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0703834104
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