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Beyond the Exome: Decoding the Next Frontier of the Rare Disease Genome

Beyond the Exome: Decoding the Next Frontier of the Rare Disease Genome
超越外显子组：解码罕见疾病基因组的下一个前沿
批准号：
354796
负责人：
Boycott Kym M
金额：
$243.71万
依托单位：
Children's Hospital of Eastern Ontario- Ottawa Children's Treatment Centre
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：
2016-10-01 至 2023-10-01
来源：
https://webapps.cihr-irsc.gc.ca/decisions/p/project_details.html?applId=354796&lang=en
关键词：
Gene Discovery Genomic Sequencing Molecular Mechanism Noncoding Variation Omics Rare Disease

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中文摘要
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英文摘要
Around 7000 rare genetic diseases (RDs) affect more than 1 million Canadians, most of them children. When considered together, RDs are a common cause of disability, early mortality, and healthcare costs. Over the past several years my research program has
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A Canadian knowledge-to-action roadmap for evidence-informed implementation of first-tier clinical genome-wide sequencing for rare disease (K2A-RD)
Care4Rare-SOLVE
Canada Research Chair - Tier 1
  • 批准号：
    404325
  • 项目类别：
  • 资助金额：
    $101.99万
  • 财政年份：
    2018
  • 负责人：
    Boycott Kym M
  • 依托单位：
    University of Ottawa
Care4Rare Canada: Harnessing multi-omics to deliver innovative diagnostic care for rare genetic diseases in Canada (C4R-SOLVE)
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