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The use of Next Generation Exome sequencing in the identification of genes responsible for rare childhood neurologic disorders

The use of Next Generation Exome sequencing in the identification of genes responsible for rare childhood neurologic disorders
使用下一代外显子组测序来鉴定导致罕见儿童神经系统疾病的基因
批准号：
213247
负责人：
Srour Myriam
金额：
$12.57万
依托单位：
Centre hospitalier universitaire Sainte-Justine (Montral, Qubec)
依托单位国家：
加拿大
项目类别：
Fellowship Programs
财政年份：
2010
资助国家：
加拿大
项目状态：
已结题
起止时间：
2010-09-01 至 2013-09-01
来源：
https://webapps.cihr-irsc.gc.ca/decisions/p/project_details.html?applId=213247&lang=en
关键词：
Genetics Homozygosity Mapping Mental Retardation Neuropathy Pediatric Neurology Whole-Exome Sequencing

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中文摘要
翻译
如果单独考虑，遗传性儿童神经系统疾病是罕见的，但作为一个群体，它们对人口和卫生保健系统构成了重大负担。鉴定致病基因是至关重要的，因为它允许遗传咨询
英文摘要
Genetic childhood neurologic disorders are rare if considered individually, however as a group, they represent a significant burden to the population and the health care system. Identification of causative genes is critical as it allows genetic counseling
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