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
• 起止时间: 2022-10-01 至 2024-10-01
• 项目状态: 已结题
• 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

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

罕见病（RDs）是严重的，通常是慢性和进行性疾病。虽然个体罕见，但考虑到有成千上万的个体rd，很多人受到影响（约14人中有1人）。大约80%的rd是由有害va引起的