Whole Exome Sequencing
Whole Exome Sequencing (WES) uses Next Generation Sequencing methodology to provide targeted sequence information from the coding regions of the genome.
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Whole Exome Sequencing (WES) uses Next Generation Sequencing methodology to provide targeted sequence information from the coding regions of the genome.
Enquire OnlineThe exome, comprising about 30 million base pairs and representing 22,000 genes, makes up roughly 2% of the genome. It is estimated that approximately 85% of disease-causing variants can be found within these protein-coding regions. WES therefore allows for a focused and cost-effective approach to identifying variants of interest within a more condensed and manageable data set. This means that a smaller, more targeted data set has the potential to provide you with the answers you need in a faster and more efficient way.
We can provide whole exome data at a variety of coverage levels to meet the needs of your project. Typical coverage options for WES include 40x, 60x, 80x, 100x, or 200x. Other coverage options may also be available, so please contact our support team for more info.
While WES can identify a wide variety of clinical genetic variants that affect protein function, it will not be able to identify structural or non-coding variants outside of the coding regions that may also be associated with disease or phenotypes of interest. To identify these variants, a whole genome sequencing approach will be more suited to your needs.
Whole Genome Sequencing is able to produce large volumes of genetic data while Whole Exome Sequencing only covers 2% of the genome but contains approximately 85% of known diseases-related variants1.
Sample Requirements
Gene by Gene will provide buccal (cheek) swab kits with each order.
Each test requires two buccal swabs which are included in each kit. This is the preferred sample collection method.
Gene By Gene will provide return packaging and a pre-paid shipping label.
*Shipping fees may apply to orders outside the United States.
If necessary, Gene by Gene can accept most DNA sample types, including:
- Extracted DNA: 20ul of 50ng/ul, OD260/OD280 ~ 1.8, include details of extraction method with samples
- Blood: 3-5cc drawn in EDTA (purple-top) tube
Results
Raw data will be provided in FastQ format. Results are delivered to the customer via secure FTP or AWS S3 bucket and are stored by Gene By Gene for 30-60 days.
Shipping
- For blood samples, please ship at room temperature in an insulated container. IT’S IMPORTANT TO NOTE: DO NOT HEAT OR FREEZE SAMPLE
- For buccal swab please follow shipping information provided
Testing Methodology
- Platform: Illumina NovaSeq 6000
- Results Delivery: Raw data will be provided in FastQ format. Results are delivered via secure FTP transfer and are only stored by Gene by Gene for 30-60 days
- Analysis: Whole Exome Reports through our reporting partner AiLife
- Enrichment: Twist Bioscience Exome 2.0 Kit
- Coverage: Commonly provided coverage ranges include 30x, 60x, and 90x. Low Pass Genome options are available with typical ranges of 0.4x, 1x, 2x, or 4x. Custom ranges can also be arranged, enquire for details.
Turnaround Time
10-15 business days
Price
Inquire for pricing
Product Brochure
Submit the adjacent Test Request Form and our laboratory will be in touch to confirm your inquiry.
Frequently Asked Questions
Related Products & Services
References
- van Dijk EL, Auger H, Jaszczyszyn Y, Thermes C. Ten years of next-generation sequencing technology. Trends Genet. 2014;30:418-426.