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OncoRep:一种单病例报告工具,用于支持使用RNA测序对乳腺癌患者进行基因组引导治疗。

OncoRep: an n-of-1 reporting tool to support genome-guided treatment for breast cancer patients using RNA-sequencing.

作者信息

Meißner Tobias, Fisch Kathleen M, Gioia Louis, Su Andrew I

机构信息

Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, 92037, CA, USA.

出版信息

BMC Med Genomics. 2015 May 21;8:24. doi: 10.1186/s12920-015-0095-z.

Abstract

BACKGROUND

Breast cancer comprises multiple tumor entities associated with different biological features and clinical behaviors, making individualized medicine a powerful tool to bring the right drug to the right patient. Next generation sequencing of RNA (RNA-Seq) is a suitable method to detect targets for individualized treatment. Challenges that arise are i) preprocessing and analyzing RNA-Seq data in the n-of-1 setting, ii) extracting clinically relevant and actionable targets from complex data, iii) integrating drug databases, and iv) reporting results to clinicians in a timely and understandable manner.

RESULTS

To address these challenges, we present OncoRep, an RNA-Seq based n-of-1 reporting tool for breast cancer patients. It reports molecular classification, altered genes and pathways, gene fusions, clinically actionable mutations and drug recommendations. It visualizes the data in an approachable html-based interactive report and a PDF clinical report, providing the clinician and tumor board with a tool to guide the treatment decision making process.

CONCLUSIONS

OncoRep is free and open-source ( https://bitbucket.org/sulab/oncorep/ ), thereby offering a platform for future development and innovation by the community.

摘要

背景

乳腺癌包含多种具有不同生物学特征和临床行为的肿瘤实体,这使得个体化医疗成为为合适的患者提供合适药物的有力工具。RNA的下一代测序(RNA-Seq)是检测个体化治疗靶点的合适方法。出现的挑战包括:i)在单病例研究中对RNA-Seq数据进行预处理和分析;ii)从复杂数据中提取临床相关且可操作的靶点;iii)整合药物数据库;iv)及时且以易于理解的方式向临床医生报告结果。

结果

为应对这些挑战,我们推出了OncoRep,这是一种基于RNA-Seq的针对乳腺癌患者的单病例研究报告工具。它报告分子分类、基因和通路改变、基因融合、临床可操作的突变以及药物推荐。它通过基于html的易于使用的交互式报告和PDF临床报告对数据进行可视化,为临床医生和肿瘤委员会提供了一个指导治疗决策过程的工具。

结论

OncoRep是免费且开源的(https://bitbucket.org/sulab/oncorep/),从而为社区未来的开发和创新提供了一个平台。

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