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Transcriptome: from laboratory to clinic room
  1. Rebecca Amy Dalrymple1,
  2. Shelagh Joss2
  1. 1 Department of Community Child Health, Acorn Centre, Vale of Leven Hospital, Alexandria, Scotland, UK
  2. 2 Department of Clinical Genetics, Royal Hospital for Children, Glasgow, UK
  1. Correspondence to Dr Rebecca Amy Dalrymple, Department of Community Child Health, Acorn Center, Vale of Leven Hospital, Alexandria, G83 0UA, Scotland, UK; rebecca.dicks{at}

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‘The “omics” refer to the collective technologies used to characterise and quantify pools of biological molecules and to explore their roles, relationships and actions in the cells of a living creature’.1 Transcriptomics is the study of the abundance of RNA transcripts in a cell or tissue, at a given time. This information adds to our understanding of gene structure, function and biological processes in different tissues and organisms.

Other notable ‘omics’:

  • Genomics is the study of an organism’s whole genome.

  • Proteomics is the study of the composition, structure, function and interaction of proteins present within a particular cell or tissue.1

  • Metabolomics is the study of molecules involved in cellular metabolism. There are over 19 000 metabolites and low molecular weight compounds.1

What is the transcriptome?

The transcriptome is the total complement of RNA transcripts in a cell.2 RNA is a single-stranded, linear polymer of nucleotides with a ribose group, transcribed (copied) from a DNA template by complementary base pairing.

There are many different types of RNA, and the previous concept that ‘DNA makes RNA makes protein’ is now scorned for being too simplistic. Messenger RNA (mRNA) forms the template for protein translation. However, to make fully functioning protein, you also need a range of non-protein coding RNAs. These regulate gene expression depending on the tissue type and a range of external factors. The importance of non-protein coding RNA is recognised increasingly3 (see table 1 for types of RNA and …

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  • Contributors RAD came up with the concept and drafted the manuscript, and SJ edited and contributed to the content of the manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent Not required.

  • Provenance and peer review Not commissioned; externally peer reviewed.