Article
Copy number variation at 1q21.1 associated with neuroblastoma.
Nature - 18 Jun 2009
Diskin Sharon J, Hou Cuiping, Glessner Joseph T, Attiyeh Edward F, Laudenslager Marci, Bosse Kristopher, Cole Kristina, Mossé Yaël P, Wood Andrew, Lynch Jill E, Pecor Katlyn, Diamond Maura, Winter Cynthia, Wang Kai, Kim Cecilia, Geiger Elizabeth A, McGrady Patrick W, Blakemore Alexandra I F, London Wendy B, Shaikh Tamim H, Bradfield Jonathan, Grant Struan F A, Li Hongzhe, Devoto Marcella, Rappaport Eric R, Hakonarson Hakon, Maris John M
Abstract excerpt
Common copy number variations (CNVs) represent a significant source of genetic diversity, yet their influence on phenotypic variability, including disease susceptibility, remains poorly understood. To address this problem in human cancer, we performed a genome-wide association study of CNVs in the childhood cancer neuroblastoma, a disease in which single nucleotide polymorphism variations are known to influence...
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