Leading Edge Genomic Services & Solutions

Whole Exome Sequenicng

Whole Exome Sequencing (WES)

WES is one of the most comprehensive tools for detecting rare disease and associated variants in an individual’s DNA. Whole Exome includes all the protein coding regions in the human genome (approximately 20,000 genes), and is believed to cover over 85% of known and to-be-discovered disease-causing genetic variants.

Service Features

  • Sample:We accept blood, saliva, buccal swab, and extracted DNA samples. (Sample Requirements)
  • Exome Capture:Agilent Sure Select Human All Exon V6
  • Sequencing Platform:Illumina NovaSeq 6000
  • Sequencing Read Type:Paired-end 150 bp
  • Turnaround Time:2~3 weeks (from sample receival to FASTQ) See test categories for a full list of turnaround time
  • Data transfer:We provide data releasing through AWS and free data uploading services.

Our CLIA-validated WES Performance Metrics

Mean Sequencing Coverage
103×
Average Raw Data
13.75 Gb
Base Pairs Covered at ≥20×
≥94%
Coverage Uniformity
≥90%
Repeatability
≥ 98% for SNVs
≥ 88% for Indels
Sensitivity
≥ 98% for SNVs
≥ 90% for Indels
Specifcity
≥ 99% for SNVs
≥ 98% for Indels
Mapping Rate
≥97%

See Validation Report Summary for more detail WES Validation Summary

What’s included in the report

Medical Report

  • Pathogenic and likely pathogenic variants related to the indication for testing. Some variants of uncertain significance that follows an appropriate inheritance mode, and closely matches the patient’s phenotype.
  • Optional medically actionable secondary findings (based on the latest ACMG recommendations).
  • Optional carrier status findings.
  • Laboratory Director signs off.

Technical Report

  • Pathogenic and likely pathogenic variants related to the indication for testing. Some variants of uncertain significance that follows an appropriate inheritance mode, and closely matches the patient’s phenotype.
  • No Laboratory Director signs off.

Data QC Report

  • Mapping, coverage, and sequencing statistics summary.
  • Optional Laboratory Director signs off.