Genome analysis through image processing with deep learning models

Abstract

AbstractGenomic sequences are traditionally represented as strings of characters: A (adenine), C (cytosine), G (guanine), and T (thymine). However, an alternative approach involves depicting sequence-related information through image representations, such as Chaos Game Representation (CGR) and read pileup images. With rapid advancements in deep learning (DL) methods within computer vision and natural language processing, there is growing interest in applying image-based DL methods to genomic sequence analysis. These methods involve encoding genomic information as images or integrating spatial information from images into the analytical process. In this review, we summarize three typical applications that use image processing with DL models for genome analysis. We examine the utilization and advantages of these image-based approaches.