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Associating somatic mutations to clinical outcomes: a pan-cancer study of survival time.
Genome Medicine ( IF 12.3 ) Pub Date : 2019-05-28 , DOI: 10.1186/s13073-019-0643-9
Paul Little 1 , Dan-Yu Lin 1 , Wei Sun 1, 2, 3
Affiliation  

We developed subclone multiplicity allocation and somatic heterogeneity (SMASH), a new statistical method for intra-tumor heterogeneity (ITH) inference. SMASH is tailored to the purpose of large-scale association studies with one tumor sample per patient. In a pan-cancer study of 14 cancer types, we studied the associations between survival time and ITH quantified by SMASH, together with other features of somatic mutations. Our results show that ITH is associated with survival time in several cancer types and its effect can be modified by other covariates, such as mutation burden. SMASH is available at https://github.com/Sun-lab/SMASH .

中文翻译:

将体细胞突变与临床结果相关联:生存时间的泛癌研究。

我们开发了亚克隆多重性分配和体细胞异质性 (SMASH),这是一种用于肿瘤内异质性 (ITH) 推断的新统计方法。SMASH 专为进行大规模关联研究而设计,每位患者使用一份肿瘤样本。在一项针对 14 种癌症类型的泛癌研究中,我们研究了生存时间与 SMASH 量化的 ITH 之间的关联,以及体细胞突变的其他特征。我们的结果表明,ITH 与几种癌症类型的生存时间相关,其影响可以通过其他协变量(例如突变负荷)进行修改。SMASH 可从 https://github.com/Sun-lab/SMASH 获得。
更新日期:2019-05-28
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