Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

BACKGROUND: Whole-genome sequencing may revolutionize medical diagnostics through rapid identification of alleles that cause disease. However, even in cases with simple patterns of inheritance and unambiguous diagnoses, the relationship between disease phenotypes and their corresponding genetic chan...

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Hlavní autoři: Lupski, James R., Reid, Jeffrey G., Gonzaga-Jauregui, Claudia, Deiros, David Rio, Chen, David C.Y., Nazareth, Lynne, Bainbridge, Matthew, Dinh, Huyen, Jing, Chyn, Wheeler, David A., McGuire, Amy L., Zhang, Feng, Stankiewicz, Pawel, Halperin, John J., Yang, Chengyong, Gehman, Curtis, Guo, Danwei, Irikat, Rola K., Tom, Warren, Fantin, Nick J., Muzny, Donna M., Gibbs, Richard A.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2010
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4036802/
https://ncbi.nlm.nih.gov/pubmed/20220177
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJMoa0908094
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