What Is Whole-Exome Sequencing?
Whole-exome sequencing offers a complete analysis of the protein-coding portion of the genome.
Typically covering 35-40 megabases, WES provides a full, detailed analysis of the portion of the genome that is translated into functional proteins. WES means that all non-coding regions are excluded, giving you a more focused functional snapshot of your sample.
The experienced team at Sampled provides whole-exome sequencing for any experimental setup using state-of-the-art platforms like Illumina’s NovaSeq 6000 and NovaSeq X-Plus. Exome sequencing is perfect for analyzing functional genetic variations in your sample of interest without investing in the more expensive and expansive whole genome sequencing (WGS) service. Industry standard of 100X coverage (sequencing depth) is recommended, but this can be adjusted to meet your specific needs.
Once the sequencing is complete, the team at Sampled is ready to provide expert, customized bioinformatics analysis on your new whole-exome dataset. This will allow you to quickly and accurately identify variants of interest in a specific protein or gain a broad picture of the functional polymorphic landscape of your genome!
Why Use Sampled’s Whole-Exome Sequencing Services?
Sampled’s fully customizable WES service offers several key advantages over other types of sequencing, and our team of experts can help you streamline the process from sample preparation to generating high-quality data you can trust.
Focus On Disease-Causing Variants
By focusing solely on the exome of the genome, you are honing in on the portion of the genome associated with known, disease-causing variants. Mutations to protein-coding regions are the primary drivers of many disease states, from cancer to cardiomyopathies. By choosing Sampled’s WES services, you are ensuring that you are only getting information that you really need.
While WGS is an incredibly powerful technology, WES is more suitable for certain applications. Simply put, there is no need to sequence the entire genome if you are only interested in variants that affect proteins. WES gives you the power to focus only on the genomic regions that matter to you and at a reduced cost. For the same cost as WGS, you can sequence the exomes of a greater number of samples. Sampled’s team of experts is there to provide expert services at every step!
Data Analysis Support
Sampled’s team of expert scientists is ready to provide you with technical support at all stages of your project. Our in-house bioinformaticians can help you analyze the data as soon as it’s available, allowing you to streamline your clinical and functional genomics projects. An unbiased outsourced analysis, alone or in addition to your in-house analysis, can ensure that no promising variant goes unnoticed and that you can pursue potential leads with confidence!
Whole-Exome Sequencing Applications
WES provides a complete picture of the variants in the protein-coding portion of the genome. Variants in coding sequences underlie many diseases, and their identification is essential for many diagnostic applications. Thus, WES can be useful for a nearly infinite range of clinical and research applications.
- Clinical Applications
- Rare variant mapping
- Discovery of new variants
- Discovery of new Mendelian diseases
- Trait selection
How Does Whole-Exome Sequencing Work?
Sampled can process almost any sample type for whole-exome sequencing analysis. Quality control checks are performed prior to sequencing, whether the DNA extract is provided by the customer or generated in-house. Careful handling by our expert team means that only high-quality DNA is taken forward for processing.
After high-quality DNA has been obtained, the genome is fragmented into smaller, more manageable pieces. End-repair is performed before covalent linking of genomic DNA (gDNA) to adapters (small, artificial DNA sequences). The exome is then enriched from this whole-genome library using targeted capture, ensuring that only the protein-coding regions are brought forward for sequencing.
To sequence the enriched exome of your samples, the Sampled team uses cutting-edge equipment like the NovaSeq 6000 sequencing system, which represents a robust, scalable system that facilitates high-quality, high-throughput sequencing of multiple samples in parallel.
Robust quality control analyses are performed to ensure that the resulting sequencing data is fit for analysis and that desired exome coverage has been obtained. Data is then sent to clients or sent for fully customizable, in-house bioinformatic analysis performed by Sampled’s team of experts. Whether a deep dive for rare variants or an analysis of known pathological variations in clinical samples, Sampled is ready to help you get the most out of your data!
What Are the Input Requirements for Whole-Exome Sequencing?
The expert team here at Sampled is prepared to analyze the whole exome from various sample types and species taken from the point of care or laboratory setting. Our technical expertise allows us to extract high-quality DNA no matter the sample requirements of your experiments.
|High-quality DNA sourced from blood, serum, saliva, tissue biopsies, hair, nail, stool, urine, semen, and cell line samples/pellets
We also work with pre-extracted DNA
|Pre-extracted DNA should be transported at 4°C (or as close to the previous storage conditions as possible).
For information on other tissue types, please contact a member of our team
All DNA extracts are subjected to stringent quality control analysis whether they are processed by Sampled or by our clients. This means that only the highest quality DNA is sent for sequencing, ensuring you get the highest quality data from your sample.
Find out more about our WES services
Are you looking to streamline your clinical or research goals with the end-to-end WES services we offer here at Sampled? Get in touch now and find out how Sampled can help with all your WES needs!