Clinical Whole Exome Sequencing Service
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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Novogene Corporation Inc.
8801 Folsom Blvd #290, Sacramento, CA 95826
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All Rights Reserved. Information and specifications are subject to change at any time without notice.