chevron_rightWhole-exome sequencing is a widely used next-generation sequencing (NGS) method that involves sequencing the protein-coding regions of the genome.
chevron_rightThe human exome represents less than 2% of the genome, but contains ~85% of known disease-related variants, making this method a cost-effective alternative to whole-genome sequencing.
chevron_rightIt consists of two steps: the first step is to select only the subset of DNA that encodes proteins. These regions are known as exons humans have about 180,000 exons, constituting about 1% of the human genome, or approximately 30 million base pairs.
chevron_rightThe second step is to sequence the exonic DNA using any high- throughput DNA sequencing technology.
chevron_rightPatient with undiagnosed genetic disease.
chevron_rightPatients presenting with Heterogeneous phenotypes.