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TarPan:一个易于适应的靶向测序panel 查看器,可用于研究和临床应用。

TarPan: an easily adaptable targeted sequencing panel viewer for research and clinical use.

机构信息

Department of Biomedical Informatics, University of Arkansas for Medical Sciences, Little Rock, AR, USA.

Cancer Institute: Myeloma Center, University of Arkansas for Medical Sciences, Little Rock, AR, USA.

出版信息

BMC Bioinformatics. 2020 Apr 15;21(1):144. doi: 10.1186/s12859-020-3477-y.

Abstract

BACKGROUND

The study of cancer genomics continually matures as the number of patient samples sequenced increases. As more data is generated, oncogenic drivers for specific cancer types are discovered along with their associated risks. This in turn leads to potential treatment strategies that pave the way to precision medicine. However, significant financial and analytical barriers make it infeasible to sequence the entire genome of every patient. In contrast, targeted sequencing panels give reliable information on relevant portions of the genome at a fiscally responsible cost. Therefore, we have created the Targeted Panel (TarPan) Viewer, a software tool, to investigate this type of data.

RESULTS

TarPan Viewer helps investigators understand data from targeted sequencing data by displaying the information through a web browser interface. Through this interface, investigators can easily observe copy number changes, mutations, and structural events in cancer samples. The viewer runs in R Shiny with a robust SQLite backend and its input is generated from bioinformatic algorithms reliably described in the literature. Here we show the results from using TarPan Viewer on publicly available follicular lymphoma, breast cancer, and multiple myeloma data. In addition, we have tested and utilized the viewer internally, and this data has been used in high-impact peer-reviewed publications.

CONCLUSIONS

We have designed a flexible, simple to setup viewer that is easily adaptable to any type of cancer targeted sequencing, and has already proven its use in a research laboratory environment. Further, we believe with deeper sequencing and/or more targeted application it could be of use in the clinic in conjunction with an appropriate targeted sequencing panel as a cost-effective diagnostic test, especially in cancers such as acute leukemia or diffuse large B-cell lymphoma that require rapid interventions.

摘要

背景

随着测序患者样本数量的增加,癌症基因组学的研究不断成熟。随着更多数据的产生,特定癌症类型的致癌驱动因素及其相关风险也被发现。这反过来又为精准医学铺平了道路,带来了潜在的治疗策略。然而,巨大的财务和分析障碍使得对每个患者的整个基因组进行测序变得不可行。相比之下,靶向测序面板以经济合理的成本提供了对基因组相关部分的可靠信息。因此,我们创建了靶向面板(TarPan)查看器,这是一种软件工具,用于研究此类数据。

结果

TarPan Viewer 通过 Web 浏览器界面显示信息,帮助研究人员了解靶向测序数据。通过这个界面,研究人员可以轻松观察癌症样本中的拷贝数变化、突变和结构事件。该查看器在 R Shiny 中运行,具有强大的 SQLite 后端,其输入是通过在文献中可靠描述的生物信息学算法生成的。在这里,我们展示了在公开可用的滤泡性淋巴瘤、乳腺癌和多发性骨髓瘤数据上使用 TarPan Viewer 的结果。此外,我们已经在内部进行了测试和利用该查看器,并且这些数据已被用于高影响力的同行评审出版物。

结论

我们设计了一个灵活、易于设置的查看器,易于适应任何类型的癌症靶向测序,并且已经在研究实验室环境中证明了其用途。此外,我们相信,随着更深层次的测序和/或更有针对性的应用,它可以与适当的靶向测序面板一起在临床上用于诊断测试,尤其是在需要快速干预的癌症中,如急性白血病或弥漫性大 B 细胞淋巴瘤。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6720/7158102/30be6cb47594/12859_2020_3477_Fig1_HTML.jpg

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