Clinical exome sequencing in neurology practice

被引：0
作者：
Satoko Miyatake
Naomichi Matsumoto
机构：
[1] Yokohama City University Graduate School of Medicine,Department of Human Genetics
来源：
Nature Reviews Neurology | 2014年 / 10卷
关键词：
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Clinical exome sequencing (CES) is becoming a standard tool for molecular diagnosis of genetic disorders, with a diagnostic yield of approximately 25%. New studies demonstrate the favourable diagnostic yield of CES for both early-onset and adult-onset neurogenetic disorders. These studies demonstrate the strengths, limitations and potential of CES in neurology practice.
引用
收藏
页码：676 / 678
页数：2
相关论文
共 18 条
[1]  
Biesecker LG(2014)Diagnostic clinical genome and exome sequencing N. Engl. J. Med. 370 2418-2425
[2]  
Green RC(2014)Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia JAMA Neurol. 71 1237-1246
[3]  
Fogel BL(2014)Clinical whole exome sequencing in child neurology practice Ann. Neurol. 76 473-483
[4]  
Srivastava S(2011)What can exome sequencing do for you? J. Med. Genet. 48 580-589
[5]  
Majewski J(2010)Exome sequencing identifies the cause of a mendelian disorder Nat. Genet. 42 30-35
[6]  
Schwartzentruber J(2013)Clinical whole-exome sequencing for the diagnosis of mendelian disorders N. Engl. J. Med. 369 1502-1511
[7]  
Lalonde E(2013)The next-generation sequencing revolution and its impact on genomics Cell 155 27-38
[8]  
Montpetit A(2012)Diagnostic exome sequencing in persons with severe intellectual disability N. Engl. J. Med. 367 1921-1929
[9]  
Jabado N(2012)Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study Lancet 380 1674-1682
[10]  
Ng SB(undefined)undefined undefined undefined undefined-undefined
12