Transcriptome Sequencing (RNA-Seq)

Abstract

The transcriptome is the entire assembly of RNA transcripts in a given cell type, including protein-coding and noncoding transcripts. Transcriptome sequencing (RNA-Seq) is a recently developed technology that uses high-throughput sequencing approaches (next-generation sequencing or NGS) to determine the sequence of all RNA transcripts in a given specimen. This chapter provides an overview of the development and technical background of transcriptomics and the advantages and limitations of RNA-Seq. This technology has rapidly increased our understanding of gene expression profiles of various cells and tissues and is allowing us to better understand alternative splicing and the functional elements of the genome and to identify single-nucleotide variants and new fusion transcripts in cancer. We also review current and potential clinical applications of RNA-Seq technology in inherited, chronic, neoplastic, and infectious diseases.