Utility of next-generation sequencing in ataxias

作者: Eng-King Tan

DOI: 10.1038/NRNEUROL.2013.212

关键词:

摘要: New research indicates that next-generation sequencing (NGS) can improve the diagnostic yield in a highly selected group of patients with ataxia, following comprehensive exclusion work-up other causes. However, routine practical application NGS will depend on refinement current technologies to facilitate data interpretation, and cost-effectiveness analysis different patient groups.

参考文章(10)
Suman Jayadev, Thomas D. Bird, Hereditary ataxias: overview Genetics in Medicine. ,vol. 15, pp. 673- 683 ,(2013) , 10.1038/GIM.2013.28
Eng-King Tan, Tetsuo Ashizawa, Genetic testing in spinocerebellar ataxias: defining a clinical role. JAMA Neurology. ,vol. 58, pp. 191- 195 ,(2001) , 10.1001/ARCHNEUR.58.2.191
Basil T. Darras, Sanjay P. Prabhu, Darryl C. De Vivo, Matteo Vatta, Yaping Yang, Christine M. Eng, Wendy K. Chung, Wendy K. M. Liew, Tawfeg Ben-Omran, Clinical application of whole-exome sequencing: a novel autosomal recessive spastic ataxia of Charlevoix-Saguenay sequence variation in a child with ataxia. JAMA Neurology. ,vol. 70, pp. 788- 791 ,(2013) , 10.1001/JAMANEUROL.2013.247
Conceição Bettencourt, Manuela Lima, Machado-Joseph Disease: from first descriptions to new perspectives Orphanet Journal of Rare Diseases. ,vol. 6, pp. 35- 35 ,(2011) , 10.1186/1750-1172-6-35
Joanne E Martindale, Sara Seneca, Stefan Wieczorek, Jorge Sequeiros, None, Spinocerebellar ataxias: An example of the challenges associated with genetic databases for dynamic mutations Human Mutation. ,vol. 33, pp. 1359- 1365 ,(2012) , 10.1002/HUMU.22156
Joshua Hersheson, Andrea Haworth, Henry Houlden, The inherited ataxias: genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics. Human Mutation. ,vol. 33, pp. 1324- 1332 ,(2012) , 10.1002/HUMU.22132
Brent L. Fogel, Barbara G. Vickrey, Jenny Walton-Wetzel, Eli Lieber, Carole H. Browner, Utilization of genetic testing prior to subspecialist referral for cerebellar ataxia. Genetic Testing and Molecular Biomarkers. ,vol. 17, pp. 588- 594 ,(2013) , 10.1089/GTMB.2013.0005
Jia-Nee Foo, Jian-Jun Liu, Eng-King Tan, Whole-genome and whole-exome sequencing in neurological diseases Nature Reviews Neurology. ,vol. 8, pp. 508- 517 ,(2012) , 10.1038/NRNEUROL.2012.148
Jia Nee Foo, Jianjun Liu, Eng-King Tan, Next-generation sequencing diagnostics for neurological diseases/disorders: from a clinical perspective. Human Genetics. ,vol. 132, pp. 721- 734 ,(2013) , 10.1007/S00439-013-1287-2
Andrea H. Németh, Alexandra C. Kwasniewska, Stefano Lise, Ricardo Parolin Schnekenberg, Esther B. E. Becker, Katarzyna D. Bera, Morag E. Shanks, Lorna Gregory, David Buck, M. Zameel Cader, Kevin Talbot, Rajith de Silva, Nicholas Fletcher, Rob Hastings, Sandeep Jayawant, Patrick J. Morrison, Paul Worth, Malcolm Taylor, John Tolmie, Mary O’Regan, Ruth Valentine, Emily Packham, Julie Evans, Anneke Seller, Jiannis Ragoussis, , Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model Brain. ,vol. 136, pp. 3106- 3118 ,(2013) , 10.1093/BRAIN/AWT236