With the development of life sciences and informatics, bioinformatics is developing as an interdisciplinary subject. Its main application is the relationship between genes and proteins and their expression. With the help of genomics, proteomics, transcriptomics, and metabolomics, researchers introduce bioinformatics research methods into fundus disease research. A series of gratifying research results have been achieved including the screening of genetic susceptibility genes, the screening of diagnostic markers, and the exploration of pathogenesis. Genomics has the characteristics of high efficiency and accuracy. It has been used to detect new mutation sites in retinoblastoma and retinal pigment degeneration research, which helps to further improve the pathogenesis of retinal genetic diseases. Transcriptomics, proteomics, and metabolomics have high throughput characteristics. They are used to analyze changes in the expression profiles of RNA, proteins, and metabolites in intraocular fluid or isolated cells in disease states, which help to screen biomarkers and further elucidate the pathogenesis. With the advancement of technology, bioinformatics will provide new ideas for the study of ocular fundus diseases.
UK Biobank is an extensive biomedical database and research resource. It contains in-depth genetic and health information from 500 000 UK subjects, comprising a wealth of basic structured data, high-throughput genomic and genetic data, and multimodal imaging data. However, difficulties in accessing the large amount of data mean that the database has not been widely used in China. We first introduced the health-related structural data, genetic data, and imaging data in the UK Biobank. We then described methods for using different types of data downloaded from UK Biobank, and explored recent research based on these data. We also discussed classic research focusing on applying artificial intelligence technology to UK Biobank data. Finally, we predicted future research trends in the utilization of UK Biobank data in areas such as anatomy, physiology, genetic variation, and phenotypic characteristics.
