Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy
New England Journal of Medicine2010Vol. 362(13), pp. 1181–1191
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James R. Lupski, Jeffrey G. Reid, Claudia Gonzaga‐Jauregui, David Rio Deiros, David C.Y. Chen, Lynne Nazareth, Matthew N. Bainbridge, Huyen Dinh, Chyn Jing, David A. Wheeler, Amy L. McGuire, Feng Zhang, Paweł Stankiewicz, John Halperin, Chengyong Yang, Curtis Gehman, Danwei Guo, Rola K. Irikat, Warren Tom, Nick J. Fantin, Donna M. Muzny, Richard A. Gibbs
Abstract
As shown in this study of a family with Charcot-Marie-Tooth disease, whole-genome sequencing can identify clinically relevant variants and provide diagnostic information to inform the care of patients.
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