Long-read sequencing and bioinformatics analysis to identify cryptic genetic mutations in patients with undiagnosed intellectual disability

长读长测序和生物信息学分析可识别未确诊智力障碍患者的隐性基因突变

• 批准号: 410658
• 负责人: Friedman Jan M
• 金额: $ 77.47万
• 依托单位: University of British Columbia
• 依托单位国家: 加拿大
• 项目类别: Operating Grants
• 财政年份: 2019
• 资助国家: 加拿大
• 起止时间: 2019-09-01 至 2022-09-01
• 项目状态: 已结题
• 来源: https://webapps.cihr-irsc.gc.ca/decisions/p/project_details.html?applId=410658&lang=en
• 关键词: Bioinformatics; Intellectual Disability; Long-Read Sequencing

Intellectual disability (ID) affects 2 to 3% of the population worldwide, and in Canada, 7,700 to 11,570 children with ID are born every year. ID places an enormous burden on affected individuals and their families, the health care system, and society. Th

智力残疾（ID）影响了全球2%至3%的人口，在加拿大，每年有7,700至11,570名患有智力残疾的儿童出生。这种疾病给受影响的个人及其家庭、卫生保健系统和社会带来了巨大的负担。Th