Chapter 4 - RNA sequencing and transcriptome analysis

Abstract

RNA sequencing (RNA-Seq) studies have become the gold standard for high-throughput transcriptome analysis. The amount of data produced by RNA-Seq is unparalleled, providing the opportunity to analyze gene expression with great precision and detail. This includes the ability to examine expression at the isoform level, determine alternate splice sites, investigate low-expressing genes, and even identify novel genes. While much of this information was initially overlooked, the computational analysis of RNA-Seq data has begun to catch up with the advances in data production abilities. RNA-Seq studies have been instrumental in advancing our understanding of the eye, and in identifying genes that play a role in visual dystrophies. RNA-Seq data holds great potential, and when the computational analysis of RNA-Seq data allows scientists to uncover its full potential, the possibilities are limitless.