The emergence and rapid development of deep learning, specifically transformer-based architectures and attention mechanisms, have had transformative implications across several domains, including bioinformatics and genome data analysis. The analogous nature of genome sequences to language texts has enabled the application of techniques that have exhibited success in fields ranging from natural language processing to genomic data. This review provides a comprehensive analysis of the most recent advancements in the application of transformer architectures and attention mechanisms to genome and transcriptome data. The focus of this review is on the critical evaluation of these techniques, discussing their advantages and limitations in the context of genome data analysis. With the swift pace of development in deep learning methodologies, it becomes vital to continually assess and reflect on the current standing and future direction of the research. Therefore, this review aims to serve as a timely resource for both seasoned researchers and newcomers, offering a panoramic view of the recent advancements and elucidating the state-of-the-art applications in the field. Furthermore, this review paper serves to highlight potential areas of future investigation by critically evaluating studies from 2019 to 2023, thereby acting as a stepping-stone for further research endeavors.
The prognosis estimation of low-grade glioma (LGG) patients with deep learning models using gene expression data has been extensively studied in recent years. However, the deep learning models used in these studies do not utilize the latest deep learning techniques, such as residual learning and ensemble learning. To address this limitation, in this study, a deep learning model using multi-omics and multi-modal schemes, namely the Multi-Prognosis Estimation Network (Multi-PEN), is proposed. When using Multi-PEN, gene attention layers are employed for each datatype, including mRNA and miRNA, thereby allowing us to identify prognostic genes. Additionally, recent developments in deep learning, such as residual learning and layer normalization, are utilized. As a result, Multi-PEN demonstrates competitive performance compared to conventional models for prognosis estimation. Furthermore, the most significant prognostic mRNA and miRNA were identified using the attention layers in Multi-PEN. For instance, MYBL1 was identified as the most significant prognostic mRNA. Such a result accords with the findings in existing studies that have demonstrated that MYBL1 regulates cell survival, proliferation, and differentiation. Additionally, hsa-mir-421 was identified as the most significant prognostic miRNA, and it has been extensively reported that hsa-mir-421 is highly associated with various cancers. These results indicate that the estimations of Multi-PEN are valid and reliable and showcase Multi-PEN’s capacity to present hypotheses regarding prognostic mRNAs and miRNAs.
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