Exome
As exome is called in the genetics all of the exons of an organism , ie all sections that potentially proteins encode . The exome cannot be mapped onto the transcriptome because, on the one hand, not all potentially protein-coding genes are actually active, and on the other hand, a gene can be processed into several different RNA templates ( splice variants ).
In medical diagnostics, it makes sense to only sequence the exome instead of the entire genome , since this is where most of the disease-causing mutations can be found, but the human exome only makes up about two percent of the genome.
literature
- M. Choi, UI Scholl et al. a .: Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. In: Proceedings of the National Academy of Sciences . Volume 106, Number 45, November 2009, pp. 19096-19101. doi : 10.1073 / pnas.0910672106 . PMID 19861545 . PMC 2768590 (free full text).
- Saskia Biskup: Neurogenetics - Movement Disorders. In: Scriptum (Congress Journal, WMW Wiener Medical Wochenschrift). 2/11, Volume 8, Issue 2, pp. 17-19 ( full text as PDF ).
Individual evidence
- ↑ Thomas Trappe: Healing with genetic data. In: Der Tagesspiegel / Wissen & Forschen from June 15, 2020, p. 22.