判别式
计算机科学
人工智能
特征(语言学)
水准点(测量)
机器学习
同义替换
特征选择
突变
错义突变
注释
特征学习
计算生物学
遗传学
基因
基因组
生物
密码子使用偏好性
大地测量学
哲学
地理
语言学
作者
Na Cheng,Chuanmei Bi,Yong Shi,Mengya Liu,A. Cao,Mengkun Ren,Junfeng Xia,Zhen Liang
出处
期刊:IEEE Journal of Biomedical and Health Informatics
[Institute of Electrical and Electronics Engineers]
日期:2023-12-14
卷期号:28 (2): 1144-1151
被引量:2
标识
DOI:10.1109/jbhi.2023.3343075
摘要
Accurate identification of driver mutations is crucial in genetic studies of human cancers. While numerous cancer driver missense mutations have been identified, research into potential cancer drivers for synonymous mutations has shown limited success to date. Here, we developed a novel machine learning framework, epSMic, for predicting cancer driver synonymous mutations. epSMic employs an iterative feature representation scheme that facilitates the learning of discriminative features from various sequential models in a supervised iterative mode. We constructed the benchmark datasets and encoded the embedding sequence, physicochemical property, and basic information such as conservation and splicing feature. The evaluation results on benchmark test datasets demonstrate that epSMic outperforms existing methods, making it a valuable tool for researchers in identifying functional synonymous mutations in cancer. We hope epSMic can enable researchers to concentrate on synonymous mutations that have a functional impact on cancer. Our code and datasets are available at https://github.com/maxcine-cloud/epSMic .
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