Whole-exome sequencing (WES) is a method of selective analysis in an exon area known to be where genes exist. Exome sequencing would be the most cost-effective approach for sequencing the targeted coding region of a genome, a region that comprises 1–2% of the genome but represents 80–90% of variants found in the entire genome. Therefore, it would be a perfect solution for cancer and genetic-related studies as well as human population studies.

WES is capable to detection a variety of mutations in genes. Most

pathogenic mutations related to diseases occur in exons. Therefore, WES is a fast and beneficial method to identify mutations causing the disease.

In comparison with WGS (whole genome sequencing), 10–20 times less output is required to analyse SNP (single nucleotide polymorphisms) and Indels, meaning the variant analysis is easier, faster and uses fewer computation resources than the WGS approach.

Main Capture Kits

  • Agilent SureSelect Exome Capture kit
  • Truseq Exome Enrichment Kit
  • Whole exon parts can be captured and variation analyses such as SNP and InDel are provided.

Sequencing Platforms

  • HiSeq 2500 / HiSeq 4000 / HiSeq X Ten / NovaSeq 6000
  • NextSeq 500

WES Results

Sequence data is analyzed and interpreted with high precision by our expert team. The results will be reviewed according to your disease and pediatric history. The final report will be sent to your doctor or genetic counselor. According to the American College of Medical Genetics and Genomics (ACMG) guideline, the variants are classified into five categories: benign, likely benign, variant of uncertain significance (VUS), likely pathogenic, or pathogenic. Benign or likely benign variants are not reported.

Sample

Peripheral blood, DNA

Turnaround Time

2-4 weeks from sample’s arrival at clinical lab