Exomszekvenálás

Exomszekvenálás, often referred to as exome sequencing, is a genomic technique that focuses on sequencing all of the protein-coding regions of the genome. These regions, known as exons, collectively make up the exome, which accounts for approximately 1-2% of the entire human genome. The primary motivation behind exome sequencing is that mutations within these coding regions are responsible for a significant proportion of known genetic diseases.

This method is considerably more cost-effective and generates a more manageable amount of data compared to whole-genome sequencing. By targeting only the exonic regions, researchers and clinicians can efficiently identify genetic variations that may lead to or predispose individuals to various conditions. This makes exome sequencing a powerful tool for diagnostic purposes, particularly in cases of rare or undiagnosed genetic disorders. It can also be employed in research to discover novel genes associated with diseases or to understand the genetic basis of complex traits.

The process typically involves isolating DNA, fragmenting it, and then capturing the exonic regions using specific probes. These captured fragments are then sequenced using next-generation sequencing technologies. The resulting sequence data is aligned to a reference genome, and variations are identified and analyzed. While exome sequencing offers high sensitivity for detecting mutations in coding regions, it does not provide information about non-coding DNA, which can also play a crucial role in gene regulation and disease.