Investigation of the utility of transcriptome sequencing for the resolution of unsolved rare genetic diseases
Investigation of the utility of transcriptome sequencing for the resolution of unsolved rare genetic diseases
研究转录组测序在解决未解决的罕见遗传病方面的效用
批准号：
441245
负责人：
Marshall Aren
金额：
$9.83万
依托单位国家：
加拿大
项目类别：
Fellowship Programs
财政年份：
2020
资助国家：
加拿大
项目状态：
已结题
起止时间：
2020-12-01 至 2023-12-01
中文摘要
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英文摘要
Rare diseases (RDs) are typically genetic conditions caused by mutations in genes essential for one of the many complex reactions within our cells. Although by definition RDs affect less than 1 in 2000 individuals, cumulatively, they affect an estimated 1
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