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Assessing the utility of long-read genome sequencing to identify genetic causes of unsolved rare diseases

Assessing the utility of long-read genome sequencing to identify genetic causes of unsolved rare diseases
评估长读基因组测序在识别未解决的罕见疾病的遗传原因方面的效用
批准号：
473742
负责人：
Del Gobbo Giulia
金额：
$9.83万
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：
2022
资助国家：
加拿大
项目状态：
未结题
起止时间：
2022-10-01 至 2025-10-01
来源：
https://webapps.cihr-irsc.gc.ca/decisions/p/project_details.html?applId=473742&lang=en
关键词：
Genome Sequencing Technologies Long-Read Genome Sequencing Molecular Diagnostics Molecular Genetics Rare Disease Rare Genetic Disorders

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中文摘要
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英文摘要
A rare disease is a disorder that affects less than 1 in 2000 people. Although individually rare, together, rare diseases affect approximately 1 in 12 people in Canada. Rare diseases are most often genetic, caused by mutations to our DNA that affect genes
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  • 批准号：
    350030
  • 项目类别：
    Studentship Programs
  • 资助金额：
    $1.27万
  • 财政年份：
    2015
  • 负责人：
    Del Gobbo Giulia
  • 依托单位：
    University of British Columbia
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