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Unravelling the complex genetic mechanisms of rare diseases using high-throughput sequencing methods

Unravelling the complex genetic mechanisms of rare diseases using high-throughput sequencing methods
利用高通量测序方法揭示罕见疾病的复杂遗传机制
批准号：
471862
负责人：
Shu Li
金额：
$6.56万
依托单位：
University of Calgary
依托单位国家：
加拿大
项目类别：
Fellowship Programs
财政年份：
2022
资助国家：
加拿大
项目状态：
已结题
起止时间：
2022-10-01 至 2024-10-01
来源：
https://webapps.cihr-irsc.gc.ca/decisions/p/project_details.html?applId=471862&lang=en
关键词：
Bioinformatics Pipeline Complex Variants Genetic Mechanisms Genome Sequencing High-Throughput Sequencing Long-Read Sequencing Rare Diseases Short-Read Sequencing Structural Variants Transcriptome

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中文摘要
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英文摘要
Rare diseases (RDs) are serious, often chronic and progressive diseases. Although individually rare, considering that there are thousands of individual RDs, a large number of people are affected (~1 in 14 people). Some 80% of RDs are due to detrimental va
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Solving the genomics of unsolved rare life-threatening COVID-19 using genome sequencing
  • 批准号：
    467728
  • 项目类别：
    Fellowship Programs
  • 资助金额：
    $4.3万
  • 财政年份：
    2022
  • 负责人：
    Shu Li
  • 依托单位：
    University of Calgary
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