PO.MD01.01 · 分子诊断与数据

Synapse.org作为支持多中心癌症数据协调、基准测试和广泛社区复用的基础平台

Synapse.org as a foundational platform supporting multicenter cancer data coordination, benchmarking, and broad community reuse

海报缩略图:Synapse.org作为支持多中心癌症数据协调、基准测试和广泛社区复用的基础平台
编号 1 展板 1 时间 4/19 02:00–05:00 区域 Section 1 主讲 Adam Taylor, PhD
分会场 AACR Project GENIE: Predictive Models and AI
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作者与单位 Authors & Affiliations

Adam Taylor, Gaia Andreoletti, Robert Allaway, Jineta Banerjee, Orion Banks, Angie Bowen, Kevin Boske, Aditi Gopalan, Ashley Clayton, Xindi Guo, Savitha Sangameswaran, Amber Nelson, Aditya Nath, Milen Nikolov, Anh Nguyet Vu, Ziwei Pan, Alex Paynter, Chelsea Nayan, Thomas Yu, Bishoy Kamel, Serghei Mangul, Alberto Pepe, Luca Foschini, Susheel Varma

Sage Bionetworks, Seattle, WA

摘要 Abstract

中文摘要
协作性癌症研究需要一个能够跨机构、跨模态和跨资助方运作的共享数据基础设施。Synapse.org由Sage Bionetworks开发,是一个供研究联盟、真实世界数据项目和计算挑战赛使用的多功能公共数据平台。我们描述了利用Synapse支持多样化癌症研究社区的情况。 Synapse提供用于验证元数据、溯源、版本控制和细粒度访问控制的工具。对于所支持的社区,我们提供整编和验证应用、领域特定门户、仪表板以及挑战赛框架。API和客户端通过GA4GH DRS将Synapse连接到本地计算和可信研究环境(Cavatica、Terra、Pluto、SevenBridges CGC)。近期的增强功能包括人工引导的、AI驱动的整编,基于OpenSearch的发现,以及自然语言数据搜索。数据通过贡献者上传(网页、CLI、API)、程序化ETL流程以及对外部存储库(GEO、dbGaP)的索引进入。整编后的数据集被索引以供发现,并通过项目门户呈现。社区的使用和反馈指导整编优先级,维持着持续改进的循环。 Synapse平台托管着超过3.6 PB的数据,被超过6,000名月活跃用户使用。癌症复杂性知识门户(Cancer Complexity Knowledge Portal)关联了160项资助、4,178篇出版物、1,039个数据集和321个聚焦癌症生物学的工具。人类肿瘤图谱网络DCC(Human Tumor Atlas Network DCC)管理着334 TB的协调化组学数据(来自2,372个病例和11,378份生物标本、涵盖超过60种疾病和25种检测的0.23M份文件),年用户超过2,500名。NF数据门户(NF Data Portal)整合了来自312项神经病学和肿瘤学研究的超过200 TB数据,并编录了超过1,100个涵盖NF1、NF2和神经鞘瘤病的工具。作为AACR Project GENIE协调中心的一部分,我们支持了来自19个中心的临床-基因组数据的ETL和共享,包括211,527名患者和250,018份样本。在Synapse上运行的DREAM癌症挑战赛已建立了包括AML分型、前列腺癌生存、免疫治疗反应和数字乳腺摄影在内的基准。独立的Synapse用户在400多个癌症相关项目中贡献了超过120万份公共文件(超过95 TB)。 一个用户友好的通用型数据平台,以及一套经过验证的数据协调和挑战赛运作机制,降低了新癌症协作的激活能——从独立项目到大型多机构网络。我们邀请研究人员探索Synapse.org及我们的数据门户。 AI被用于汇总指标和优化措辞。作者审阅并批准了所有内容。
查看英文原文 English abstract
Collaborative cancer research requires a shared data infrastructure that functions across institutions, modalities, and funders. Synapse.org, developed by Sage Bionetworks, is a versatile public data platform used by research consortia, real-world data efforts, and computational challenges. We describe the use of Synapse to support diverse cancer research communities. Synapse provides tools for validated metadata, provenance, versioning, and fine-grained access control. For supported communities we provide curation and validation apps, domain-specific portals, dashboards, and challenge frameworks. APIs and clients connect Synapse to local compute and trusted research environments (Cavatica, Terra, Pluto, SevenBridges CGC) via GA4GH DRS. Recent enhancements include human-guided, AI-powered curation, OpenSearch-based discovery, and natural-language data search. Data arrive through contributor uploads (web, CLI, APIs), programmatic ETL pipelines, and indexing of external repositories (GEO, dbGaP).. Curated datasets are indexed for discovery and surfaced through program portals. Community use and feedback guide curation priorities, maintaining a continuous improvement cycle. The Synapse platform hosts >3.6 PB data used by >6,000 monthly users. The Cancer Complexity Knowledge Portal links 160 grants, 4,178 publications, 1,039 datasets, and 321 tools focused on cancer biology. The Human Tumor Atlas Network DCC manages 334 TB of harmonized omics data (0.23M files from 2,372 cases and 11,378 biospecimens across >60 diseases and 25 assays), with >2,500 annual users. The NF Data Portal integrates over 200 TB data from 312 neurology and oncology studies, and catalogues >1,100 tools spanning NF1, NF2, and schwannomatosis. As part of the coordinating center for AACR Project GENIE we have supported the ETL and sharing of clinico-genomic data from 19 centers, including 211,527 patients and 250,018 samples. DREAM cancer challenges run on Synapse have established benchmarks including in AML subtyping, prostate cancer survival, immunotherapy response and digital mammography. Independent Synapse users have contributed >1.2M public files (>95 TB) across 400+ cancer-related projects. A user-friendly generalist data platform and a set of proven data coordination and challenge operations lower the activation energy for new cancer collaborations, from independent projects to large, multi-institutional networks. We invite researchers to explore Synapse.org and our data portals. AI was used to summarize metrics and refine wording Authors reviewed and approved all content.
利益披露 Disclosure
A. Taylor, None.. G. Andreoletti, None.. R. Allaway, None.. J. Banerjee, None.. O. Banks, None.. A. Bowen, None.. K. Boske, None.. A. Gopalan, None.. A. Clayton, None.. X. Guo, None.. S. Sangameswaran, None.. A. Nelson, None.. A. Nath, None.. M. Nikolov, None.. A. Vu, None.. Z. Pan, None.. A. Paynter, None.. C. Nayan, None.. T. Yu, None.. B. Kamel, None.. S. Mangul, None.. A. Pepe, None.. L. Foschini, None.. S. Varma, None.

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