Exome sequencingとは 意味・読み方・使い方

Exome sequencing (also known as targeted exome capture) is an efficient strategy to selectively sequence the coding regions of the human genome to identify novel genes associated with rare and common disorders. Routine whole genome sequencing of large numbers of individuals is still not feasible partly due to the high cost associated with the technique. At present, it is necessary to use an alternative approach, in which certain regions of the genome, such as the “exome”, are targeted, enriched and sequenced, which requires ~5% as much sequencing as a whole genome. The “exome” represents all the exons in the human genome (i.e., the transcribed region of the genome). Exons are short, functionally important sequences of DNA which represent the regions in genes that are translated into protein and untranslated region flanking them (UTR). UTRs are usually not included in exome studies. In total there are about 180,000 exons found in the human genome. These protein coding regions constitute about 1% of the human genome which translates to about 30 megabases (Mb) in length. It is estimated that the protein coding regions of the human genome constitute about 85% of the disease-causing mutations.