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PredDSMC:人类癌症中驱动同义突变的预测因子。

PredDSMC: A predictor for driver synonymous mutations in human cancers.

作者信息

Wang Lihua, Sun Jianhui, Ma Shunshuai, Xia Junfeng, Li Xiaoyan

机构信息

Key Laboratory of Intelligent Computing and Signal Processing of Ministry of Education and Information Materials and Intelligent Sensing Laboratory of Anhui Province, Institutes of Physical Science and Information Technology, Anhui University, Hefei, Anhui, China.

出版信息

Front Genet. 2023 Mar 27;14:1164593. doi: 10.3389/fgene.2023.1164593. eCollection 2023.

Abstract

Driver mutations play a critical role in the occurrence and development of human cancers. Most studies have focused on missense mutations that function as drivers in cancer. However, accumulating experimental evidence indicates that synonymous mutations can also act as driver mutations. Here, we proposed a computational method called PredDSMC to accurately predict driver synonymous mutations in human cancers. We first systematically explored four categories of multimodal features, including sequence features, splicing features, conservation scores, and functional scores. Further feature selection was carried out to remove redundant features and improve the model performance. Finally, we utilized the random forest classifier to build PredDSMC. The results of two independent test sets indicated that PredDSMC outperformed the state-of-the-art methods in differentiating driver synonymous mutations from passenger mutations. In conclusion, we expect that PredDSMC, as a driver synonymous mutation prediction method, will be a valuable method for gaining a deeper understanding of synonymous mutations in human cancers.

摘要

驱动突变在人类癌症的发生和发展中起着关键作用。大多数研究都集中在作为癌症驱动因素的错义突变上。然而,越来越多的实验证据表明,同义突变也可以作为驱动突变。在这里,我们提出了一种名为PredDSMC的计算方法,用于准确预测人类癌症中的驱动同义突变。我们首先系统地探索了四类多模态特征,包括序列特征、剪接特征、保守得分和功能得分。进一步进行特征选择以去除冗余特征并提高模型性能。最后,我们利用随机森林分类器构建了PredDSMC。两个独立测试集的结果表明,在区分驱动同义突变和乘客突变方面,PredDSMC优于现有方法。总之,我们期望PredDSMC作为一种驱动同义突变预测方法,将成为深入了解人类癌症中同义突变的有价值方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb79/10083435/5692b195cf34/fgene-14-1164593-g001.jpg

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