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

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
项目状态：
已结题
起止时间：
2021-10-01 至 2024-10-01
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

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中文摘要
翻译
“沉默基因组计划”旨在以一种文化上安全的方式，增加未确诊遗传疾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%的土著家庭接受了基因诊断
英文摘要
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
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