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分子肿瘤委员会的临床生物信息学需求。

Clinical bioinformatics desiderata for molecular tumor boards.

机构信息

Institute of Experimental Endocrinology and Oncology, National Research Council, Via Sergio Pansini, 5, 80131 Naples, Italy.

Biostatistics, Bioinformatics and Clinical Trial Center, IRCCS Regina Elena National Cancer Institute, Via Elio Chianesi, 53, 00144 Rome, Italy.

出版信息

Brief Bioinform. 2024 Jul 25;25(5). doi: 10.1093/bib/bbae447.

DOI:10.1093/bib/bbae447
PMID:39297878
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11411775/
Abstract

Clinical Bioinformatics is a knowledge framework required to interpret data of medical interest via computational methods. This area became of dramatic importance in precision oncology, fueled by cancer genomic profiling: most definitions of Molecular Tumor Boards require the presence of bioinformaticians. However, all available literature remained rather vague on what are the specific needs in terms of digital tools and expertise to tackle and interpret genomics data to assign novel targeted or biomarker-driven targeted therapies to cancer patients. To fill this gap, in this article, we present a catalog of software families and human skills required for the tumor board bioinformatician, with specific examples of real-world applications associated with each element presented.

摘要

临床生物信息学是通过计算方法解释医学相关数据所需的知识框架。在肿瘤精准医学领域,这一领域变得非常重要,这得益于癌症基因组分析:大多数分子肿瘤委员会的定义都要求有生物信息学家的参与。然而,所有现有的文献在处理和解释基因组数据以将新的靶向或生物标志物驱动的靶向疗法分配给癌症患者方面,对于数字工具和专业知识的具体需求仍然相当模糊。为了填补这一空白,在本文中,我们提出了肿瘤委员会生物信息学家所需的软件系列和人类技能目录,并展示了与每个元素相关的实际应用的具体示例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1ad4/11411775/920d2b72e7d8/bbae447f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1ad4/11411775/eed647e4a4f7/bbae447f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1ad4/11411775/920d2b72e7d8/bbae447f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1ad4/11411775/eed647e4a4f7/bbae447f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1ad4/11411775/920d2b72e7d8/bbae447f2.jpg

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Nat Med. 2024 Feb;30(2):334-337. doi: 10.1038/s41591-023-02715-8.
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Comprehensive genomic profiling on metastatic Melanoma: results from a network screening from 7 Italian Cancer Centres.转移性黑色素瘤的全面基因组分析:来自 7 家意大利癌症中心的网络筛选结果。
J Transl Med. 2024 Jan 6;22(1):29. doi: 10.1186/s12967-023-04776-2.
3
RNA-sequencing based first choice of treatment and determination of risk in multiple myeloma.
基于 RNA 测序的多发性骨髓瘤一线治疗选择和风险评估。
Front Immunol. 2023 Nov 15;14:1286700. doi: 10.3389/fimmu.2023.1286700. eCollection 2023.
4
Liquid-biopsy proteomics combined with AI identifies cellular drivers of eye aging and disease in vivo.液体活检蛋白质组学与人工智能相结合,可在体内鉴定眼睛衰老和疾病的细胞驱动因素。
Cell. 2023 Oct 26;186(22):4868-4884.e12. doi: 10.1016/j.cell.2023.09.012. Epub 2023 Oct 19.
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Molecular tumour boards - current and future considerations for precision oncology.分子肿瘤委员会——精准肿瘤学的当前和未来考量。
Nat Rev Clin Oncol. 2023 Dec;20(12):843-863. doi: 10.1038/s41571-023-00824-4. Epub 2023 Oct 16.
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Mutational landscape of cancer-driver genes across human cancers.人类癌症中癌症驱动基因的突变景观。
Sci Rep. 2023 Aug 7;13(1):12742. doi: 10.1038/s41598-023-39608-2.
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Development of a somatic variant registry in a National Cancer Center: towards Molecular Real World Data preparedness.在国家癌症中心开发一个体细胞变异注册库:为分子真实世界数据做好准备。
J Biomed Inform. 2023 Jun;142:104394. doi: 10.1016/j.jbi.2023.104394. Epub 2023 May 18.
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Sequence-Based Platforms for Discovering Biomarkers in Liquid Biopsy of Non-Small-Cell Lung Cancer.基于序列的非小细胞肺癌液体活检生物标志物发现平台
Cancers (Basel). 2023 Apr 13;15(8):2275. doi: 10.3390/cancers15082275.
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ESMO Open. 2022 Oct;7(5):100570. doi: 10.1016/j.esmoop.2022.100570. Epub 2022 Sep 29.
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The mutational signatures of formalin fixation on the human genome.福尔马林固定对人类基因组的突变特征。
Nat Commun. 2022 Sep 6;13(1):4487. doi: 10.1038/s41467-022-32041-5.