Towards Interpretable Imaging Genomics Analysis: Methodological Developments and Applications

Identifying the relationship between imaging features and genetic variation (a term coined"imaging genomics") offers valuable insight into the pathogenesis of cancer, as well as cognitive and psychiatric disorders. However, how to integrate-omics and imaging data in a biologically meaningful approach to both provide pathobiological underpinning and achieve clinical applications remain challenging. In this review, we aim to discuss the difficulties in combining different sources of data and explaining the genotype-phenotype association, and we attempt to discuss the potential applications of imaging genomics in several (patho)physiological questions to better understand human physiology and disease. Future efforts on deciphering the genotype-phenotype landscapes by interpretable imaging genomics analyses are needed to provide new insights into molecular biology and molecular medicine.