在 cBioPortal 中分析和可视化 AACR 项目 GENIE 生物制药协作的纵向基因组和临床数据。

Analysis and Visualization of Longitudinal Genomic and Clinical Data from the AACR Project GENIE Biopharma Collaborative in cBioPortal.

机构信息

Memorial Sloan Kettering Cancer Center, New York, New York.

Department of Pathology, Netherlands Cancer Institute, Amsterdam, the Netherlands.

出版信息

Cancer Res. 2023 Dec 1;83(23):3861-3867. doi: 10.1158/0008-5472.CAN-23-0816.

Abstract

UNLABELLED

International cancer registries make real-world genomic and clinical data available, but their joint analysis remains a challenge. AACR Project GENIE, an international cancer registry collecting data from 19 cancer centers, makes data from >130,000 patients publicly available through the cBioPortal for Cancer Genomics (https://genie.cbioportal.org). For 25,000 patients, additional real-world longitudinal clinical data, including treatment and outcome data, are being collected by the AACR Project GENIE Biopharma Collaborative using the PRISSMM data curation model. Several thousand of these cases are now also available in cBioPortal. We have significantly enhanced the functionalities of cBioPortal to support the visualization and analysis of this rich clinico-genomic linked dataset, as well as datasets generated by other centers and consortia. Examples of these enhancements include (i) visualization of the longitudinal clinical and genomic data at the patient level, including timelines for diagnoses, treatments, and outcomes; (ii) the ability to select samples based on treatment status, facilitating a comparison of molecular and clinical attributes between samples before and after a specific treatment; and (iii) survival analysis estimates based on individual treatment regimens received. Together, these features provide cBioPortal users with a toolkit to interactively investigate complex clinico-genomic data to generate hypotheses and make discoveries about the impact of specific genomic variants on prognosis and therapeutic sensitivities in cancer.

SIGNIFICANCE

Enhanced cBioPortal features allow clinicians and researchers to effectively investigate longitudinal clinico-genomic data from patients with cancer, which will improve exploration of data from the AACR Project GENIE Biopharma Collaborative and similar datasets.

摘要

未加标签

国际癌症登记处提供真实世界的基因组和临床数据,但联合分析仍然是一个挑战。AACR 项目 GENIE 是一个国际癌症登记处,从 19 个癌症中心收集数据,通过癌症基因组生物标志物分析门户(https://genie.cbioportal.org)公开提供超过 13 万名患者的数据。对于 25000 名患者,AACR 项目 GENIE 生物制药合作组织正在使用 PRISSMM 数据管理模型收集额外的真实世界纵向临床数据,包括治疗和结果数据。这些病例中有几千例现在也可以在 cBioPortal 中获得。我们显著增强了 cBioPortal 的功能,以支持可视化和分析这个丰富的临床基因组关联数据集,以及其他中心和联盟生成的数据集。这些增强功能的示例包括:(i)在患者层面上可视化纵向临床和基因组数据,包括诊断、治疗和结果的时间线;(ii)能够根据治疗状态选择样本,便于在特定治疗前后比较样本的分子和临床特征;(iii)基于个体治疗方案的生存分析估计。这些功能共同为 cBioPortal 用户提供了一个工具包,用于交互式地研究复杂的临床基因组数据,以生成关于特定基因组变异对癌症预后和治疗敏感性影响的假设和发现。

意义

增强的 cBioPortal 功能使临床医生和研究人员能够有效地研究癌症患者的纵向临床基因组数据,这将改善对 AACR 项目 GENIE 生物制药合作组织和类似数据集的数据探索。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9c8c/10690089/90bc788940a7/3861fig1.jpg

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索