exome
Sign in to saveThe 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.
Article
9 sectionsContents
- Statistics
- Definition
- Next-generation sequencing
- Whole-exome sequencing
- Whole-genome sequencing
- Ethical considerations
- Diseases and diagnoses
- See also
- References
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.
== Statistics == thumb|360x360px|Distinction between genome, exome, and [[transcriptome. The exome consists of all of the exons within the genome. In contrast, the trascriptome varies between cell types (e.g. neurons vs cardiac cells), only involving a portion of the exons that are actually transcribed into mRNA.]] The human exome consists of roughly 233,785 exons, about 80% of which are less than 200 base pairs in length, constituting a total of about 1.1% 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.