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Solve-Mosaicism: Using deep-DNA and single-cell sequencing to investigate the contribution of mosaicism to unsolved rare genetic disease

Solve-Mosaicism: Using deep-DNA and single-cell sequencing to investigate the contribution of mosaicism to unsolved rare genetic disease
解决镶嵌现象：利用深度 DNA 和单细胞测序来研究镶嵌现象对未解决的罕见遗传病的贡献
批准号：
436140
负责人：
de Kock Leanne
金额：
$10.2万
依托单位：
Children's Hospital of Eastern Ontario Research Institute Inc
依托单位国家：
加拿大
项目类别：
Fellowship Programs
财政年份：
2020
资助国家：
加拿大
项目状态：
已结题
起止时间：
2020-10-01 至 2022-10-01
来源：
https://webapps.cihr-irsc.gc.ca/decisions/p/project_details.html?applId=436140&lang=en
关键词：
Mosaicism Rare Genetic Diseases

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中文摘要
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英文摘要
Rare genetic diseases affect approximately 1 in 40 people, therefore representing a significant societal burden. The genetic cause of thousands of rare diseases remains unsolved. Mosaicism occurs when a cell acquires a genetic mutation at some stage durin
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Solve-Mosaicism: Using deep-DNA and single-cell sequencing to investigate the contribution of mosaicism to unsolved rare genetic disease
DICER1: An investigation of the intracranial syndrome phenotypes and mosaicism
  • 批准号：
    318187
  • 项目类别：
    Studentship Programs
  • 资助金额：
    $10.93万
  • 财政年份：
    2014
  • 负责人：
    de Kock Leanne
  • 依托单位：
    McGill University
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