期刊
BRIEFINGS IN BIOINFORMATICS
卷 22, 期 5, 页码 -出版社
OXFORD UNIV PRESS
DOI: 10.1093/bib/bbab123
关键词
deleterious synonymous mutation; machine learning; deep learning; undersampling scheme
资金
- National Key R&D Program of China [2020YFA0908700]
- National Natural Science Foundation of China [62072003, 61672037, 31501169, 11835014, U19A2064]
- Cultivation Plan for the Academic Scholar of the High Level University [00298]
- Recruitment Program for Leading Talent Team of Anhui Province [2019-16]
The study expanded the sample size, identified the most effective clustering center scheme, and proposed the usDSM model for predicting deleterious synonymous mutations, which showed superior performance. The research also found that deep learning models do not play a substantial role in predicting deleterious synonymous mutations.
Although synonymous mutations do not alter the encoded amino acids, they may impact protein function by interfering with the regulation of RNA splicing or altering transcript splicing. New progress on next-generation sequencing technologies has put the exploration of synonymous mutations at the forefront of precision medicine. Several approaches have been proposed for predicting the deleterious synonymous mutations specifically, but their performance is limited by imbalance of the positive and negative samples. In this study, we firstly expanded the number of samples greatly from various data sources and compared six undersampling strategies to solve the problem of the imbalanced datasets. The results suggested that cluster centroid is the most effective scheme. Secondly, we presented a computational model, undersampling scheme based method for deleterious synonymous mutation (usDSM) prediction, using 14-dimensional biology features and random forest classifier to detect the deleterious synonymous mutation. The results on the test datasets indicated that the proposed usDSM model can attain superior performance in comparison with other state-of-the-art machine learning methods. Lastly, we found that the deep learning model did not play a substantial role in deleterious synonymous mutation prediction through a lot of experiments, although it achieves superior results in other fields. In conclusion, we hope our work will contribute to the future development of computational methods for a more accurate prediction of the deleterious effect of human synonymous mutation. The web server of usDSM is freely accessible at http://usdsm.xialab.info/.
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