The exome is the part of the genome composed of exons, the sequences which, when transcribed, remain within the mature RNA after introns are removed by RNA splicing and contribute to the final protein product encoded by that gene. It consists of all DNA that is transcribed into mature RNA in cells of any type, as distinct from the transcriptome, which is the RNA that has been transcribed only in a specific cell population. The exome of the human genome consists of roughly 180,000 exons constituting about 1% of the total genome, or about 30 megabases of DNA. Though composing a very small fraction of the genome, mutations in the exome are thought to harbor 85% of mutations that have a large effect on disease. Exome sequencing has proved to be an efficient strategy to determine the genetic basis of more than two dozen Mendelian or single gene disorders.
- Ng, SB; Turner EH; Robertson PD; Flygare SD; Bigham AW; Lee C; Shaffer T; Wong M; Bhattacharjee A; Eichler EE; Bamshad M; Nickerson DA; Shendure J (10 September 2009). "Targeted capture and massively parallel sequencing of 12 human exomes". Nature. 461 (7261): 272–276. doi:10.1038/nature08250. PMC 2844771. PMID 19684571.
- Choi M, Scholl UI, Ji W, Liu T, Tikhonova IR, Zumbo P, Nayir A, Bakkaloğlu A, Ozen S, Sanjad S, Nelson-Williams C, Farhi A, Mane S, Lifton RP (10 November 2009). "Genetic diagnosis by whole exome capture and massively parallel DNA sequencing". Proc Natl Acad Sci U S A. 106 (45): 19096–19101. doi:10.1073/pnas.0910672106. PMC 2768590. PMID 19861545.
- Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, Nickerson DA, Shendure J (27 September 2011). "Exome sequencing as a tool for Mendelian disease gene discovery". Nat Rev Genet. 12 (11): 745–755. doi:10.1038/nrg3031. PMID 21946919.