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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Novogene Corporation Inc.

8801 Folsom Blvd #290, Sacramento, CA 95826