Federated analysis of BRCA1 and BRCA2 variation in a Japanese cohort.
Federated analysis of BRCA1 and BRCA2 variation in a Japanese cohort.
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日本队列中 BRCA1 和 BRCA2 变异的联合分析。
DOI：
10.1016/j.xgen.2022.100109
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发表时间：
2022
期刊：
影响因子：
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通讯作者：
Casaletto J
中科院分区：
文献类型：
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作者：
Casaletto J
目前，ClinVar中超过40%的种系变异是意义不确定的变异（VUS）。这些变体仍然未分类，部分原因是解释它们所需的患者水平数据是孤立的。联邦分析可以通过“将代码带到数据中”来克服这个问题：在其安全的家庭机构内通过计算分析敏感的患者级数据，并为研究人员提供否则无法访问的数据的有价值的见解。我们通过对RIKEN的乳腺癌临床数据进行联合分析来测试这一原则，这些数据来自BioBank Japan存储库。我们能够在RIKEN的安全计算框架内分析这些数据，而无需传输数据，为解释几种变体收集证据。这项工作代表了一种帮助实现全球基因组学与健康联盟（GA4GH）核心章程的方法：负责任地共享基因组数据，造福人类健康。
More than 40% of the germline variants in ClinVar today are variants of uncertain significance (VUSs). These variants remain unclassified in part because the patient-level data needed for their interpretation is siloed. Federated analysis can overcome this problem by "bringing the code to the data": analyzing the sensitive patient-level data computationally within its secure home institution and providing researchers with valuable insights from data that would not otherwise be accessible. We tested this principle with a federated analysis of breast cancer clinical data at RIKEN, derived from the BioBank Japan repository. We were able to analyze these data within RIKEN's secure computational framework without the need to transfer the data, gathering evidence for the interpretation of several variants. This exercise represents an approach to help realize the core charter of the Global Alliance for Genomics and Health (GA4GH): to responsibly share genomic data for the benefit of human health.