EpiBrCan-Lite: A lightweight deep learning model for breast cancer subtype classification using epigenomic data

IF 4.9 2区 医学 Q1 COMPUTER SCIENCE, INTERDISCIPLINARY APPLICATIONS Computer methods and programs in biomedicine Pub Date : 2024-12-04 DOI:10.1016/j.cmpb.2024.108553
Punam Bedi , Surbhi Rani , Bhavna Gupta , Veenu Bhasin , Pushkar Gole
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引用次数: 0

Abstract

Background and objectives

Early breast cancer subtypes classification improves the survival rate as it facilitates prognosis of the patient. In literature this problem was prominently solved by various Machine Learning and Deep Learning techniques. However, these studies have three major shortcomings: huge Trainable Weight Parameters (TWP), suffer from low performance and class imbalance problem.

Methods

This paper proposes a lightweight model named EpiBrCan-Lite for classifying breast cancer subtypes using DNA methylation data. This model encompasses three blocks namely Data Encoding, TransGRU, and Classification blocks. In Data Encoding block, the input features are encoded into equal sized chunks and then passed down to TransGRU block which is a modified version of traditional Transformer Encoder (TE). In TransGRU block, MLP module of traditional TE is replaced by GRU module, consisting of two GRU layers to reduce TWP and capture the long-range dependencies of input feature data. Furthermore, output of TransGRU block is passed to Classification block for classifying breast cancer into their subtypes.

Results

The proposed model is validated using Accuracy, Precision, Recall, F1-score, FPR, and FNR metrics on TCGA breast cancer dataset. This dataset suffers from the class imbalance problem which is mitigated using Synthetic Minority Oversampling Technique (SMOTE). Experimentation results demonstrate that EpiBrCan-Lite model attained 95.85 % accuracy, 95.96 % recall, 95.85 % precision, 95.90 % F1-score, 1.03 % FPR, and 4.12 % FNR despite of utilizing only 1/1500 of TWP than other state-of-the-art models.

Conclusion

EpiBrCan-Lite model is efficiently classifying breast cancer subtypes, and being lightweight, it is suitable to be deployed on low computational powered devices.
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EpiBrCan-Lite:使用表观基因组数据进行乳腺癌亚型分类的轻量级深度学习模型。
背景与目的:早期乳腺癌亚型分类有助于患者的预后,从而提高患者的生存率。在文献中,这个问题被各种机器学习和深度学习技术显著地解决了。然而,这些研究存在三个主要缺点:可训练权参数(TWP)过大、性能低下和类不平衡问题。方法:本文提出了一种轻量级的EpiBrCan-Lite模型,用于利用DNA甲基化数据对乳腺癌亚型进行分类。该模型包含三个块,即数据编码、TransGRU和分类块。在数据编码块中,输入特征被编码成大小相等的块,然后传递到TransGRU块,TransGRU块是传统Transformer Encoder (TE)的改进版本。在TransGRU块中,将传统TE的MLP模块替换为GRU模块,GRU模块由两个GRU层组成,以降低TWP并捕获输入特征数据的长期依赖关系。此外,TransGRU块的输出被传递给Classification块,用于将乳腺癌分类为其亚型。结果:采用TCGA乳腺癌数据集的准确性、精密度、召回率、f1评分、FPR和FNR指标对所提出的模型进行了验证。该数据集存在类不平衡问题,使用合成少数过采样技术(SMOTE)减轻了类不平衡问题。实验结果表明,epbrcan - lite模型的准确率为95.85%,召回率为95.96%,精确度为95.85%,f1评分为95.90%,FPR为1.03%,FNR为4.12%,而TWP的利用率仅为其他先进模型的1/1500。结论:EpiBrCan-Lite模型能有效地对乳腺癌亚型进行分类,且重量轻,适合部署在低计算能力的设备上。
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来源期刊
Computer methods and programs in biomedicine
Computer methods and programs in biomedicine 工程技术-工程:生物医学
CiteScore
12.30
自引率
6.60%
发文量
601
审稿时长
135 days
期刊介绍: To encourage the development of formal computing methods, and their application in biomedical research and medical practice, by illustration of fundamental principles in biomedical informatics research; to stimulate basic research into application software design; to report the state of research of biomedical information processing projects; to report new computer methodologies applied in biomedical areas; the eventual distribution of demonstrable software to avoid duplication of effort; to provide a forum for discussion and improvement of existing software; to optimize contact between national organizations and regional user groups by promoting an international exchange of information on formal methods, standards and software in biomedicine. Computer Methods and Programs in Biomedicine covers computing methodology and software systems derived from computing science for implementation in all aspects of biomedical research and medical practice. It is designed to serve: biochemists; biologists; geneticists; immunologists; neuroscientists; pharmacologists; toxicologists; clinicians; epidemiologists; psychiatrists; psychologists; cardiologists; chemists; (radio)physicists; computer scientists; programmers and systems analysts; biomedical, clinical, electrical and other engineers; teachers of medical informatics and users of educational software.
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