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通过基于参考的基因型赋值来重建私人基因组

Matthew J Mosca¹, Hyunghoon Cho^2,3

¹Broad Institute of MIT and Harvard, Cambridge, MA, USA.

|December 5, 2023

概括

基因组数据的隐私处于危险之中. 研究人员可以使用归算服务器重建参考面板基因组,挑战间接数据访问的假设. 需要新的保障措施来确保基因组数据的安全共享.

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:

基因型归算对于提高遗传研究数据质量和统计能力至关重要.
公共归算服务器为研究人员提供对基因组参考面板的间接访问.
当前的做法假设,当仅通过归算服务器访问面板时,隐私风险可以忽略不计.

研究的目的:

调查与使用公共归算服务器相关的隐私风险.
挑战假设,对参考面板的间接访问构成最小的隐私威胁的假设.
开发和展示用于重建参考组基因组的方法.

主要方法:

开发了算法策略,用于构建人工输入样本和解释归算结果.
这些方法被用来准确地重建参考组的单元类型.
贝叶斯连接算法被用来通过遗传亲属连接重建的单元类型来重新组装双胞胎基因组.

主要成果:

发现了证据反对从归算服务器中忽略不计的隐私风险的假设.
通过各种归算工具和设置,可以准确地重建参考组的单元类型.
重建的基因组可以通过遗传亲属与个人联系起来,从而实现大量的基因组重组.
人口遗传估计量化了基于对手的数据,面板易受链接的比例.

结论:

归算服务器参考面板中的基因组易受重建的影响.
现有的隐私保护措施可能不足,需要采取额外的安全措施.
敌对算法可以揭示新的隐私风险,促进基因组学中安全的数据共享实践.

关键词:

基因组数据保护基因组数据保护基因组的隐私基因组的隐私基因型的归算基因型的归算推算服务器的推算服务器隐私风险评估隐私风险评估隐私风险评估重建攻击重建攻击

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