对应用多基因风险评分到不同人群的实用方法
Aniruddh P Patel1, Akl C Fahed1
1Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts.
Current protocols
|November 3, 2023
概括
本研究介绍了一种实用的7步方法,用于优化特定人群的多基因风险得分 (PRS). 这种方法增强了遗传敏感性评估和临床实用性,使PRS更容易获得.
科学领域:
- 遗传学和基因组学 遗传学和基因组学
- 临床医学 临床医学
- 生物信息学是一种生物信息学.
背景情况:
- 多基因风险评分 (PRS) 评估一个人对疾病的遗传倾向.
- 在PRS的性能,计算和跨不同人群的报告方面存在挑战.
- 优化PRS对于其有效的临床应用至关重要.
研究的目的:
- 为目标人群提供一个实用性的7步方法,以优化多基因风险得分 (PRS).
- 通过简化其优化过程,促进PRS在临床实践中的实施.
- 利用公开可用的数据和方法来实现可访问的PRS优化.
主要方法:
- 选择源基因组广泛关联研究 (GWAS) 和归算.
- 多基因分数计算方法的选择.
- 使用遗传祖先的主要组成部分进行得分调整.
- 选择表现最好的乐谱.
- 人口分布百分位数的定义.
- 验证了优化的PRS性能.
- 在临床实践中优化PRS的实施策略.
主要成果:
- 为优化多基因风险得分 (PRS) 制定了七步框架.
- 该方法的设计使其易于实施,不需要高级遗传学专业知识.
- 该方法利用公开可用的数据和既定方法.
结论:
- 拟议的务实方法简化了PRS优化对不同人群.
- 这种方法提高了PRS在各种临床环境中的潜在实用性.
- 标准化优化和PRS的实施可以改善遗传风险评估.
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