Long-read technologies and pangenome approaches to improve genetic studies of human diseases and traits

长读技术和泛基因组方法可改善人类疾病和性状的遗传学研究

• 批准号: 489039
• 负责人: Bourque Guillaume
• 金额: $ 78.58万
• 依托单位: McGill University
• 依托单位国家: 加拿大
• 项目类别: Operating Grants
• 财政年份: 2023
• 资助国家: 加拿大
• 起止时间: 2023-09-01 至 2028-09-01
• 项目状态: 未结题
• 来源: https://webapps.cihr-irsc.gc.ca/decisions/p/project_details.html?applId=489039&lang=en
• 关键词: Bioinformatics; Disease; Genetics; Genome Graphs; Genome Reference; Mobile Element Polymorphisms; Pangenome; Short Tandem Repeats; Telomeres; Unmappable Reads; Bioinformatics; Disease; Genetics; Genome Graphs; Genome Reference; Mobile Element Polymorphisms; Pangenome; Short Tandem Repeats; Telomeres; Unmappable Reads

Twenty years ago, the sequence of the first human genome was completed and became the steppingstone for a revolution in various areas of human genetics and medicine. Over the years, this reference has been incrementally improved but it still contains erro

二十年前，第一个人类基因组的顺序已经完成，并成为人类遗传学和医学各个领域革命的垫脚石。多年来，此参考已得到逐步改进，但仍然包含ERRO