多基因分数目录:新的功能和工具,使得公平的研究.
Samuel A Lambert1,2,3,4,5, Benjamin Wingfield5, Joel T Gibson1,2,3
1Cambridge Baker Systems Genomics Initiative, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
medRxiv : the preprint server for health sciences
|June 10, 2024
概括
现在,PGS目录为多基因分数 (PGS) 提供了扩展的数据和功能. 一个新的计算器工具可以实现可重复的PGS计算,促进在疾病预测和治疗反应研究中的公平使用.
科学领域:
- 人类遗传学 人类遗传学
- 生物信息学是一种生物信息学.
- 基因组医学是基因组医学.
背景情况:
- 多基因分数 (PGS) 对人类遗传研究至关重要,有助于疾病风险分层和预测治疗反应.
- PGS目录是PGS的主要存储库,强调FAIR数据原则.
- 以前的限制包括数据内容和祖先多样性,阻碍了广泛应用.
研究的目的:
- 介绍最近对PGS目录的改进,这是对多基因分数的FAIR存储库.
- 引入PGS目录计算器 (pgsc_calc) 以进行可重复和公平的PGS计算.
- 促进下一代PGS研究和临床整合.
主要方法:
- 在PGS目录中扩展数据内容和祖先多样性.
- 开发了PGS目录计算器 (pgsc_calc):一个开源的,可扩展的管道.
- 实施了遗传祖先估计和得分正常化,以实现公平的PGS应用.
主要成果:
- 现在PGS目录包括扩展的数据和更大的祖先多样性.
- 在pgsc_calc管道允许可重复计算的PGS.
- 用户可以量化许多常见疾病和特征的遗传倾向.
结论:
- 更新PGS目录和引入pgsc_calc PGS研究的较低障碍.
- 这些进展支持用于疾病预防和治疗的多基因评分的临床整合.
- 公平获得PGS计算工具对于推进基因组医学至关重要.
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