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Tumor Mutation Burden Computation in Two Pan-Cancer Precision Medicine Next-Generation Sequencing Panels.
Journal of Computational Biology ( IF 1.7 ) Pub Date : 2020-10-13 , DOI: 10.1089/cmb.2019.0055
Yongqian Shu 1, 2 , Xiaohong Wu 3 , Jia Shen 3 , Dongdong Luo 3 , Xiang Li 3 , Hailong Wang 3 , Yuanhua Tom Tang 3
Affiliation  

FD-180 and FD-600 are two next-generation sequencing panels developed by First Dimension Biosciences Co. for detecting mutations in cancer tissues and providing therapeutics guidance in precision medicine applications. FD-180 includes the coding exons of about 180 genes, including all the known drug target genes and some important driver genes; whereas FD-600 includes the coding exons of 578 cancer driver genes in the COSMIC database as of year 2016 when the panels are developed. Additional noncoding regions in the selected genes are included if they are reported as clinically meaningful in ClinVar. Tumor mutation burden (TMB) is a statistical index calculated from genomic sequencing for immunotherapeutic treatments, especially for PD1/PD-L1 antibodies. We used our computational algorithm on 81 patients and provided their classifications. TMB can be estimated quite accurately for the FD-180 and FD-600 panels, both for The Cancer Genome Atlas data and in clinical practice.

中文翻译:

两个泛癌精准医学下一代测序面板中的肿瘤突变负荷计算。

FD-180和FD-600是First Dimension Biosciences Co.开发的两款新一代测序panel,用于检测癌组织中的突变并为精准医疗应用提供治疗指导。FD-180包含约180个基因的编码外显子,包括所有已知的药物靶基因和一些重要的驱动基因;而 FD-600 包括截至 2016 年开发面板时 COSMIC 数据库中 578 个癌症驱动基因的编码外显子。如果所选基因中的其他非编码区域在 ClinVar 中报告为具有临床意义,则包括在内。肿瘤突变负荷 (TMB) 是根据免疫治疗的基因组测序计算得出的统计指标,尤其是 PD1/PD-L1 抗体。我们对 81 名患者使用了我们的计算算法并提供了他们的分类。
更新日期:2020-10-14
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