Next-generation sequencing (NGS)-based technologies are ideal for genomic analyses owing to their cost-effectiveness, unprecedented speed, and accuracy. Acceleration in examining genome, transcriptome, and epigenome has made significant impact in biomedical sciences. This review highlights the applications of high-throughput NGS technologies in improving the molecular understanding of retinal degenerative diseases (RDDs). I focus on NGS-based methods and strategies that are allowing expedited disease gene identifications, improved diagnosis, and deeper understanding of the mechanisms through which genetic variations lead to diseases.
Keywords: Epigenome; Exome sequencing; Genomic; RNA-seq; Retinal degenerative diseases; Single-cell sequencing; Targeted sequencing; Transcriptome.