Employs high throughput sequencing to identify disease causing mutations in a person’s exome.
The exome comprises 180,000 exons, encoding 22,000 genes, that contain the protein coding information and accounts for approximately 1% of the whole genome.
Whole-exome sequencing can evaluate 90-95% of the exome.
It is sequencing of proteins-coding DNA allowing assessment of a wide range of genetic variants for diagnostic purposes in epilepsy, autism, and intellectual disabilities.
Genome sequencing, sequences nearly all DNA.
A tyypical exome sequencing identifies a proximally 40,000 sequence variants, and a genome sequence identifies approximally 3 million variants that differ from the human genome reference.