Transcriptome Sequencing (RNA-Seq)

  • Sugganth Daniel
  • Alberto Paniz-Mondolfi
  • Federico A. Monzon


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 new fusion transcripts in cancer. We also review research and potential clinical applications of RNA-Seq technology in inherited, chronic, neoplastic, and infectious diseases.


Down Syndrome Fanconi Anemia Transcriptome Profile Fusion Transcript Massively Parallel Signature Sequencing 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer Science+Business Media New York 2015

Authors and Affiliations

  • Sugganth Daniel
    • 1
  • Alberto Paniz-Mondolfi
    • 1
  • Federico A. Monzon
    • 1
    • 2
  1. 1.Department of Pathology and ImmunologyBaylor College of MedicineHoustonUSA
  2. 2.Department of Molecular and Human GeneticsBaylor College of MedicineHoustonUSA

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