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Next-generation sequencing elucidates the genetic aetiology of novel and rare paediatric disorders in founder populations.

Next-generation sequencing elucidates the genetic aetiology of novel and rare paediatric disorders in founder populations.
下一代测序阐明了创始人群中新型和罕见儿科疾病的遗传病因。
批准号：
294385
负责人：
Farhan Sali M
金额：
$0.07万
依托单位：
University of Western Ontario
依托单位国家：
加拿大
项目类别：
财政年份：
2013
资助国家：
加拿大
项目状态：
已结题
起止时间：
2013-09-01 至 2013-12-01
来源：
https://webapps.cihr-irsc.gc.ca/decisions/p/project_details.html?applId=294385&lang=en
关键词：
Amish Community Clinical Diagnoses Developmental Disorder Exome Sequencing Founder Population Genetic Mapping Ics Travel Awards Neurology Old Order Mennonites Rare Genetic Disorder

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中文摘要
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英文摘要
Rare genetic diseases affect one in 12 and together affect the lives of approximately 500, 000 Canadians. While individually rare, such diseases collectively account for up to 10% of hospitalizations. Their disproportionate prevalence, primarily the resul
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会议论文
Applying genome sequence analysis tools in human diseases.
The application of next-generation sequencing technology in identifying the genetic origins of unclassified familial disorders.
  • 批准号：
    327808
  • 项目类别：
    Studentship Programs
  • 资助金额：
    $7.65万
  • 财政年份：
    2014
  • 负责人：
    Farhan Sali M
  • 依托单位：
    University of Western Ontario
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