Deep learning models in genomics; are we there yet?

Abstract

With the evolution of biotechnology and the introduction of the high throughput sequencing, researchers have the ability to produce and analyze vast amounts of genomics data. Since genomics produce big data, most of the bioinformatics algorithms are based on machine learning methodologies, and lately deep learning, to identify patterns, make predictions and model the progression or treatment of a disease. Advances in deep learning created an unprecedented momentum in biomedical informatics and have given rise to new bioinformatics and computational biology research areas. It is evident that deep learning models can provide higher accuracies in specific tasks of genomics than the state of the art methodologies. Given the growing trend on the application of deep learning architectures in genomics research, in this mini review we outline the most prominent models, we highlight possible pitfalls and discuss future directions. We foresee deep learning accelerating changes in the area of genomics, especially for multi-scale and multimodal data analysis for precision medicine.

Keywords: Bioinformatics; Computational biology; Deep learning; Gene expression and regulation; Genomics; Precision medicine.