Rise of Deep Learning Clinical Applications and Challenges in Omics Data: A Systematic Review

Abstract

This research aims to review and evaluate the most relevant scientific studies about deep learning (DL) models in the omics field. It also aims to realize the potential of DL techniques in omics data analysis fully by demonstrating this potential and identifying the key challenges that must be addressed. Numerous elements are essential for comprehending numerous studies by surveying the existing literature. For example, the clinical applications and datasets from the literature are essential elements. The published literature highlights the difficulties encountered by other researchers. In addition to looking for other studies, such as guidelines, comparative studies, and review papers, a systematic approach is used to search all relevant publications on omics and DL using different keyword variants. From 2018 to 2022, the search procedure was conducted on four Internet search engines: IEEE Xplore, Web of Science, ScienceDirect, and PubMed. These indexes were chosen because they offer enough coverage and linkages to numerous papers in the biological field. A total of 65 articles were added to the final list. The inclusion and exclusion criteria were specified. Of the 65 publications, 42 are clinical applications of DL in omics data. Furthermore, 16 out of 65 articles comprised the review publications based on single- and multi-omics data from the proposed taxonomy. Finally, only a small number of articles (7/65) were included in papers focusing on comparative analysis and guidelines. The use of DL in studying omics data presented several obstacles related to DL itself, preprocessing procedures, datasets, model validation, and testbed applications. Numerous relevant investigations were performed to address these issues. Unlike other review papers, our study distinctly reflects different observations on omics with DL model areas. We believe that the result of this study can be a useful guideline for practitioners who look for a comprehensive view of the role of DL in omics data analysis.

Keywords

• omics
• deep learning
• genomics
• transcriptomics
• metabolomics