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

基本信息

项目摘要

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
大约每40人中就有1人患有罕见遗传病,因此构成了重大的社会负担。数千种罕见疾病的遗传原因仍未得到解决。当细胞在生命周期的某个阶段获得基因突变时,嵌合现象就发生了

项目成果

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de Kock Leanne其他文献

de Kock Leanne的其他文献

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{{ truncateString('de Kock Leanne', 18)}}的其他基金

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:
    441259
  • 财政年份:
    2020
  • 资助金额:
    $ 10.2万
  • 项目类别:
    Fellowship Programs
DICER1: An investigation of the intracranial syndrome phenotypes and mosaicism
DICER1:颅内综合征表型和嵌合体的研究
  • 批准号:
    318187
  • 财政年份:
    2014
  • 资助金额:
    $ 10.2万
  • 项目类别:
    Studentship Programs

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