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Long-read sequencing and bioinformatics analysis to identify cryptic genetic mutations in patients with undiagnosed intellectual disability

Long-read sequencing and bioinformatics analysis to identify cryptic genetic mutations in patients with undiagnosed intellectual disability
长读长测序和生物信息学分析可识别未确诊智力障碍患者的隐性基因突变
批准号：
410658
负责人：
Friedman Jan M
金额：
$77.47万
依托单位：
University of British Columbia
依托单位国家：
加拿大
项目类别：
Operating Grants
财政年份：
2019
资助国家：
加拿大
项目状态：
已结题
起止时间：
2019-09-01 至 2022-09-01
来源：
https://webapps.cihr-irsc.gc.ca/decisions/p/project_details.html?applId=410658&lang=en
关键词：
Bioinformatics Intellectual Disability Long-Read Sequencing

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中文摘要
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英文摘要
Intellectual disability (ID) affects 2 to 3% of the population worldwide, and in Canada, 7,700 to 11,570 children with ID are born every year. ID places an enormous burden on affected individuals and their families, the health care system, and society. Th
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Improving whole genome sequencing as a clinical test for genetic causes of intellectual disability
  • 批准号：
    366576
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    2016
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    Friedman Jan M
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    University of British Columbia
Assessing the clinical utility of DECIDE: A novel e-counselling aid for clinical genome-wide sequencing
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    191199
  • 项目类别：
    Operating Grants
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  • 财政年份：
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  • 负责人：
    Friedman Jan M
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