Exomeszekvenálás

Exomeszekvenálás, often translated as exome sequencing, is a powerful genomic technique that focuses on sequencing only the protein-coding regions of an organism's genome. These protein-coding regions are collectively known as the exome, and they represent a relatively small fraction, typically around 1-2%, of the entire genome. However, this small fraction is estimated to contain the majority of known disease-causing mutations.

The process involves isolating the exome from a DNA sample, often through a technique called exome capture, which uses probes to selectively bind to and enrich for exonic DNA fragments. These enriched fragments are then sequenced using high-throughput sequencing technologies. The resulting sequence data is analyzed to identify variations, such as single nucleotide polymorphisms (SNPs) and small insertions or deletions (indels), within the protein-coding genes.

Exome sequencing has become a valuable tool in both research and clinical settings. In research, it aids in identifying genes associated with specific traits or diseases. Clinically, it is frequently employed for diagnosing rare genetic disorders, particularly when traditional genetic testing has been inconclusive. By pinpointing mutations in genes that directly impact protein function, exome sequencing can provide a molecular diagnosis, leading to more targeted management and counseling for patients and their families. Despite its utility, interpretation of exome sequencing data can be complex, and the identification of a variant does not always equate to a definitive diagnosis.