Genome analysis: WGS, WES, G4500/CES

Genome analysis: WGS, WES, G4500/CES

  • Sequencing entire genomes (Whole Genome Sequencing, WGS): Analyse all 3 billion nucleotides of the human genome, including the exon-coding region (of about 22,000 genes) and the non-protein coding region – introns
  • Sequencing the entire coding region (Whole exome sequencing, WES): analyse only the protein-coding regions (exons) of about 22,000 genes. Although accounting for only 1% of the entire genome, 85% of pathogenic mutations occur in this coding region. Therefore, compared to WGS, WES is a more cost-effective and efficient method.
  • CES (G4500): Unlike WES, CES only analyzes the coding regions of 4,503 genes instead of 22,000 genes. However, these are the most well-identified disease-related genes to date. Therefore, CES is the most economical method compared to WGS and WES but still ensures a high diagnosis rate.

Applicable test candidates

Foetus/children/patient has non-specific clinical symptoms, especially for the following diseases:

• A complex phenotype with multiple differential diagnoses.
• A genetically heterogeneous disorder.
• A suspected genetic disorder but gene specific testing is not available.
• Premarital genetic disease screening, and newborn screening when there is a family history of genetic disease.

Scientific evidence for the application of WGS, WES, CES in disease diagnosis and health care

DiseaseNDiagnosis rateScientific Research
Severe congenital developmental disorder in children113340%Wright et. al. 2018
Children with neuromuscular disease5675 (gene panel) – 79% (WES)Schofield et. al. 2017
Children with complex neurological disorders with genetic predisposition15029.3% vs 7.3% had made a clinical diagnosisVissers et. al. 2017
Children with suspected single-gene disorder805 7.5% vs 13.75% had made a clinical diagnosisStark et al. 2016
Paediatric patients/patients with complicated clinical manifestations, multiple lesions14554% (WES or trio WES)Dillion et. al. 2018

Sensitivity and specificity

Sensitivity and specificity were determined based on Oncospan reference standards (Horizon Discovery, UK). This is the database containing the most recognized mutations in the world currently, the number of mutations has a frequency of up to 25%, distributed over 143 different genes.

The sensitivity was 99.5% (248 mutations detected out of 249 mutations) and specificity was 99.9%

MEDICAL DOCUMENTS

Supporting Documents for WES
Supporting Documents for WGS
Supporting Documents for CES

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