PRScalc是从直接向消费者提供的基因组学数据中计算出原始多基因风险得分的隐私保护计算
Lorena Sandoval1,2, Saleet Jafri1, Jeya Balaji Balasubramanian2
1Department of Biomedical Informatics, George Mason University, Fairfax, VA 22030, United States.
Bioinformatics advances
|October 23, 2023
概括
一个新的浏览器内工具允许个人使用消费者基因组学数据私下计算多基因风险得分 (PRS). 这款PRS计算器评估个人风险,而无需共享遗传信息,为研究应用增强隐私.
科学领域:
- 基因组学就是基因组学.
- 生物信息学是一种生物信息学.
- 计算生物学 计算生物学
背景情况:
- 多基因评分 (PGS) 目录包含3000多个多基因风险评分 (PRS),涵盖400多个出版物中的500多个特征.
- 使用消费者基因组学数据评估个体级别的多变量相对风险会带来隐私方面的挑战.
研究的目的:
- 从消费者基因组学数据评估私人计算多基因风险得分 (PRS) 的可行性.
- 开发一个浏览器内工具,直接将PGS目录应用于个人遗传数据.
主要方法:
- 开发了一个使用JavaScript,HTML和CSS进行浏览器内PRS计算的Web应用程序 (PRScalc).
- 将PRScalc工具与PGS目录和消费者遗传数据 (例如23andMe) 集成.
- 计算器将PGS目录的条目与SNP数据进行匹配,使用beta系数进行风险评估.
主要成果:
- 证明了在个人设备 (包括智能手机) 上私下计算PRS的可行性.
- 该工具不需要下载或安装软件,在本地处理数据.
- 成功匹配和计算PRS,使用多达几千个遗传变异和完整的23andMe SNP数据.
结论:
- 该PRScalc工具允许使用易于获得的消费者基因组学数据进行私人,可访问的多基因风险得分计算.
- 这种方法促进了大规模基因组数据集的应用,以进行个性化风险评估,而不会影响数据隐私.
- 该工具在GitHub上使用MIT许可证,使用公共领域数据集.
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