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Genetics & Biotechnology vocabulary · Sequencing and Genomics

Exome

Meaning in genetics & biotechnology, with examples

/ˈeksoʊm/nounCommon term

In genetics & biotechnology, exome means: All the exons in a genome, that is, its protein-coding part. In humans it makes up only about 1–2% of the genome but contains most known disease-causing variants.

In Turkish: ekzom

How it is used

Mostly heard in 'whole-exome sequencing' (WES) or simply 'exome sequencing', a common test for rare diseases. Clinicians 'order an exome', and labs may 'reanalyze the exome' later. An exome test costs less than a genome but misses most non-coding variants.

Example sentences

  1. Exome sequencing found the cause of the child's epilepsy after years of tests.

  2. We asked the lab to reanalyze the exome, because new disease genes have been described since the first test.

Common collocations

  • whole-exome sequencing (WES)
  • clinical exome
  • exome reanalysis
  • trio exome
  • exonA part of a gene that stays in the mature mRNA after splicing; most exons contain sequence that codes for the protein.
  • whole-genome sequencingSequencing nearly all of an organism's DNA, both the genes and the regions between them, in a single test.
  • sequencingAny method that works out the exact order of bases (A, T, G and C) in a piece of DNA or RNA.
  • variantA difference in a DNA sequence compared with a reference sequence. It is the neutral word used in clinical genetics, whether the change is harmful or harmless.

More terms: Sequencing and Genomics

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