Exome

In genetics, the exome refers to the entirety of an organism's exons, i.e. all sections that potentially code for proteins. In humans, it comprises around 23,000 genes with approximately 50 million DNA bases.

The exome cannot be mapped to the transcriptome, as not all potential protein-coding genes are actually active and a gene can be processed in several different RNA patterns (splice variants).

For medical diagnostics, it has proven useful to sequence only the exome, which comprises around 1-2% of the human genome, rather than the entire genome. However, 89% of the known disease-causing variants are found here. In genetic diagnostics, all genes of these coding sections are sequenced simultaneously.