Establishing a common federated infrastructure for secure API-driven multi-party federation on clinico-genomic cohorts

为临床基因组队列的安全 API 驱动的多方联盟建立通用的联盟基础设施

• 批准号: MC_PC_21026
• 负责人: Serena Nik-Zainal
• 金额: $ 25.5万
• 依托单位: University of Cambridge
• 依托单位国家: 英国
• 项目类别: Intramural
• 财政年份: 2022
• 资助国家: 英国
• 起止时间: 2022 至 无数据
• 项目状态: 已结题
• 来源: https://gtr.ukri.org/projects?ref=MC_PC_21026
• 关键词: Establishing; common; federated; infrastructure; secure

Trusted Research Environments (TREs) are secure spaces for researchers to access and analyse sensitive data. They help prevent unauthorised access and/or re-identification of individuals from de-identified data. Many research institutions and data providers have their own TREs, but their TREs currently cannot “talk” to each other. The ability for TREs to talk is known as federation. Even where researchers are allowed to use data held in two separate TREs, analysing them together would still require their combination within a single TRE. This is challenging and costly with large datasets, like whole genome sequences, and can delay new discoveries. We propose a UK first demonstration of federation of genomic data by bridging the TREs of the NIHR Cambridge Biomedical Research Centre and Genomics England. Both contain rich, secure, governed sources of fully consented clinical-genomic data from patients.After querying the data within the two separate TREs to find individuals with certain characteristics, a joint analysis will be run within both environments, and the results combined in a separate secure cloud environment. This means that no original data will move, only results.New standards for federated TRE systems will be developed and shared. Learning from the project will unlock unprecedented possibilities for collaborations with clinical-genomic data across the research councils, potentially leading to new discoveries with long term public benefit.

可信研究环境（TREs）是研究人员访问和分析敏感数据的安全空间。它们有助于防止未经授权的访问和/或从已删除身份的数据中重新识别个人。许多研究机构和数据提供者都有自己的TREs，但目前他们的TREs还不能相互“交谈”。TREs对话的能力被称为federation。即使允许研究人员使用两个单独的TREs中保存的数据，将它们一起分析仍然需要在单个TREs中将它们结合起来。对于像全基因组序列这样的大型数据集来说，这是具有挑战性和昂贵的，并且可能会延迟新的发现。我们提议通过桥接英国国立卫生研究院剑桥生物医学研究中心和基因组学英格兰的TREs联合基因组数据的英国第一个示范。两者都包含丰富，安全，管理的来源，完全同意患者的临床基因组数据。在查询两个独立的TREs中的数据以查找具有某些特征的个体之后，将在两个环境中运行联合分析，并将结果合并到一个单独的安全云环境中。这意味着原始数据不会移动，只会移动结果。将开发和共享联邦电子通信系统的新标准。从该项目中学习将为跨研究委员会的临床基因组数据合作开启前所未有的可能性，有可能带来具有长期公共利益的新发现。

项目成果

A living biobank of patient-derived ductal carcinoma in situ mouse-intraductal xenografts identifies risk factors for invasive progression.

• DOI: 10.1016/j.ccell.2023.04.002
• 发表时间: 2023-05-08
• 期刊: CANCER CELL
• 影响因子: 50.3
• 作者: Hutten, Stefan J.;de Bruijn, Roebi;Lutz, Catrin;Badoux, Madelon;Eijkman, Timo;Chao, Xue;Ciwinska, Marta;Sheinman, Michael;Messal, Hendrik;Herencia-Ropero, Andrea;Kristel, Petra;Mulder, Lennart;van der Waal, Rens;Sanders, Joyce;Almekinders, Mathilde M.;Llop-Guevara, Alba;Davies, Helen R.;van Haren, Matthijs J.;Martin, Nathaniel I.;Behbod, Fariba;Nik-Zainal, Serena;Serra, Violeta;van Rheenen, Jacco;Lips, Esther H.;Wessels, Lodewyk F. A.;Grand Challenge PRECISION Consortium, Jelle;Wesseling, Jelle;Scheele, Colinda L. G. J.;Jonkers, Jos
• 通讯作者: Jonkers, Jos

Diagnosis of Ovarian Carcinoma Homologous Recombination DNA Repair Deficiency From Targeted Gene Capture Oncology Assays.

通过靶向基因捕获肿瘤学检测诊断卵巢癌同源重组 DNA 修复缺陷。

• DOI: 10.1200/po.22.00720
• 发表时间: 2023
• 期刊: JCO precision oncology
• 影响因子: 4.6
• 作者: Krumm N

Multi-party trusted research environment federation: Establishing infrastructure for secure analysis across different clinical-genomic datasets

多方可信研究环境联盟：建立跨不同临床基因组数据集进行安全分析的基础设施

• DOI: 10.5281/zenodo.7085535
• 发表时间: 2022
• 作者: Nik-Zainal P