Exome

Not to be confused with exosome.

The exome is composed of all of the exons within the genome, the sequences which, when transcribed, remain within the mature RNA after introns are removed by RNA splicing. This includes untranslated regions of messenger RNA (mRNA), and coding regions. Exome sequencing has proven to be an efficient method of determining the genetic basis of more than two dozen Mendelian or single gene disorders.[1]

  1. ^ Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, Nickerson DA, Shendure J (September 2011). "Exome sequencing as a tool for Mendelian disease gene discovery". Nature Reviews Genetics. 12 (11): 745–55. doi:10.1038/nrg3031. PMID 21946919. S2CID 15615317.