PICOTEES:a privacy-preserving online service of phenotype exploration for genetic-diagnostic variants from Chinese children cohorts

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万方数据
维普

外文摘要：The growth in biomedical data resources has raised potential privacy concerns and risks of genetic infor-mation leakage.For instance,exome sequencing aids clinical decisions by comparing data through web services,but it requires significant trust between users and providers.To alleviate privacy concems,the most commonly used strategy is to anonymize sensitive data.Unfortunately,studies have shown that anonym-ization is insufficient to protect against reidentification attacks.Recently,privacy-preserving technologies have been applied to preserve application utility while protecting the privacy of biomedical data.We present the PICOTEES framework,a privacy-preserving online service of phenotype exploration for genetic-diagnostic variants(https://birthdefectlab.cn:3000/).PICOTEES enables privacy-preserving queries of the phenotype spectrum for a single variant by utilizing trusted execution environment technology,which can protect the privacy of the user's query information,backend models,and data,as well as the final results.We demon-strate the utility and performance of PICOTEES by exploring a bioinformatics dataset.The dataset is from a cohort containing 20,909 genetic testing patients with 3,152,508 variants from the Children's Hospital of Fudan University in China,dominated by the Chinese Han population(＞99.9％).Our query results yield a large number of unreported diagnostic variants and previously reported pathogenicity.

外文关键词：

Privacy protectionRare diseases in childrenGenetic testingWeb systemTrusted execution environment

作者：

Xinran Dong、Yulan Lu、Lanting Guo、Chuan Li、Qi Ni、Bingbing Wu、Huijun Wang、Lin Yang、Songyang Wu、Qi Sun、Hao Zheng、Wenhao Zhou、Shuang Wang

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作者单位：

Center for Molecular Medicine,Children's Hospital of Fudan University,Shanghai 201102,China

Key Laboratory of Birth Defects,Children's Hospital of Fudan University,Shanghai 201102,China

Department of Bioinformatics,Hangzhou Nuowei Information Technology Co.,Ltd,Hangzhou,Zhejiang 310000,China

The Third Research Institute of the Ministry of Public Security,Shanghai 200031,Chlna

Xiamen Campus of Children's Hospital of Fudan University,Xiamen,Fujian 361006,China

Institutes for Systems Genetics,West China Hospital,Chengdu,Sichuan 610041,China

Shanghai Putuo People's Hospital,Tongji University,Shanghai 200060,China

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基金：

Shanghai Hospital Development CenterNational Key R&D Program of ChinaNational Key R&D Program of ChinaScience and Technology Commission of ShanghaiShanghai Municipal Science and Technology Major ProjectNational Key Research and Development ProgramMajor Research Projects for Young and Middleaged People of Fujian ProvinceKey Lab Information Network Security,Ministry of Public Security"Pioneer"and"Leading Goose"R&D Program of ZhejiangNational Key R&D Program of ChinaNational Key R&D Program of China

项目编号：

SHDC2020CR6028-0022020YFC20064022022ZD01160032200240070020Z119006002018YFC01169032021ZQNZD0172022C011262021YFC25008022021YFC2500806

出版年：

2024

DOI：

10.1016/j.jgg.2023.09.003

遗传学报

中国遗传学会中国科学院遗传与发育生物学研究所

遗传学报

CSTPCD

影响因子：0.821

ISSN：1673-8527

年,卷(期)：2024.51(2)

参考文献量34