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Improving whole genome sequencing as a clinical test for genetic causes of intellectual disability

Improving whole genome sequencing as a clinical test for genetic causes of intellectual disability
改进全基因组测序作为智力障碍遗传原因的临床测试
批准号:
366576
负责人:
Friedman Jan M
金额:
$7.29万
依托单位国家:
加拿大
项目类别:
Operating Grants
财政年份:
2016
资助国家:
加拿大
项目状态:
已结题
起止时间:
2016-11-01 至 2017-11-01

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中文摘要
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英文摘要
Intellectual disability is a life-long condition characterized by deficits in cognitive functioning and adaptive skills that affects 2-3% of Canadians. Intellectual disability has enormous clinical, educational, social and emotional costs for affected ind
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Long-read sequencing and bioinformatics analysis to identify cryptic genetic mutations in patients with undiagnosed intellectual disability
  • 批准号:
    410658
  • 项目类别:
    Operating Grants
  • 资助金额:
    $77.47万
  • 财政年份:
    2019
  • 负责人:
    Friedman Jan M
  • 依托单位:
Assessing the clinical utility of DECIDE: A novel e-counselling aid for clinical genome-wide sequencing
A Public Discussion of Incidental Findings from Genomic Sequencing Technology.
  • 批准号:
    209000
  • 项目类别:
    Miscellaneous Programs
  • 资助金额:
    $0.22万
  • 财政年份:
    2010
  • 负责人:
    Friedman Jan M
  • 依托单位:
Massively parallel genomic sequencing for clinical identification of mutations that cause intellectual disability
  • 批准号:
    191199
  • 项目类别:
    Operating Grants
  • 资助金额:
    $32.85万
  • 财政年份:
    2009
  • 负责人:
    Friedman Jan M
  • 依托单位:
海外基金