Improving the diagnosis rate for Canadian Indigenous children with rare diseases by tailoring the analysis of whole genome sequencing

通过定制全基因组测序分析提高加拿大土著儿童罕见病的诊断率

• 批准号: 459624
• 负责人: Maroilley Tatiana
• 金额: $ 9.83万
• 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: 2021
• 资助国家: 加拿大
• 起止时间: 2021-10-01 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=459624&lang=en
• 关键词: Bioinformatics Pipeline; Complex Variants; Genetic Variants; Genome Sequencing; Indigenous; Rare Disease; Silent Genomes; Structural Variants; Variant Detection; Variant Interpretation

The Silent Genomes Project aims to increase access to state-of-the-art whole genome sequencing for Indigenous families with undiagnosed genetic conditions, in a culturally safe way. Currently, only ~30% of Indigenous families are receiving a genetic diagn

沉默基因组项目旨在以一种文化安全的方式，增加患有未确诊遗传病的土著家庭获得最先进的全基因组测序的机会。目前，只有约30%的土著家庭正在接受基因诊断