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Clinical Whole Exome Sequencing Service

High-QualityAffordableFast ResultsContact us today for our current promotional prices, plus additional discounts available for more than 24 samples!

Novogene offers CLIA-validated Whole Exome Sequencing (WES) for investigation or diagnoses of genetic variations underlying cancers, Mendelian diseases, and complex human disorders.

Whole Exome Sequencing is gaining popularity as a viable and cost-effective alternative to Whole Genome Sequencing: WES targets all protein-coding regions (~1% of the whole genome) responsible for 85% of all disease-causing mutations.

Service Features

  • Starting Materials: gDNA, Whole Blood, Saliva, Buccal Swab, and FFPE samples
  • Applications: Germline Variants and Somatic Variants
  • Sequencing Platform: Illumina NovaSeq 6000 platform
  • Sequencing Coverage: 50X or 100X
  • Turnaround Time: 2 Weeks (10 Working Days)
  • Quality Assurance: Performed by Licensed Personnel in CLIA-certified Laboratory
  • Deliverables: FASTQ, BAM, VCF Files, and Medical Report (optional)
  • Data Transfer: AWS and Free Data Uploading Services

Clinical WES Workflow

Performance Metrics

Validated Mean Sequencing Coverage 103x
Average Raw Data 13.78 G
Base Pairs Covered at ≥20x ≥ 94%
Coverage Uniformity ≥ 90%
Mapping Rate ≥ 97%
Repeatability SNVs ≥ 98%
Indels ≥ 88%
Sensitivity SNVs ≥ 98%
Indels ≥ 90%
Specificity SNVs ≥ 99%
Indels ≥ 98%

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