WES is a highly reliable tool for identifying variants. Especially for the analysis of clinical samples, WES provides a cost-effective alternative to whole genome sequencing (WGS).
Whole Exome Sequencing
Reliable coverage of protein-coding regions
Why sequence whole exomes?
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Main advantages of WES
Exons make up 1 to 2% of the entire human genome, and harbor the majority of mutations that are associated with inherited diseases.
Diagnostic processes that utilize sequencing focused on these regions can provide results more effectively.
- Full coverage of protein-coding regions
- Strong reliability enabled by high sequencing depth
- Generates small set of data for easy functional interpretation
- Fast results
- Low costs for sequencing, data storage and analysis
- Broad insights when a phenotype does not show association to a known mutation
Service workflow
1. Initial meeting
When you consider using one of our services, our scientific team will help choosing the optimal project design. Each service can be customized by adding options. You will receive an overview of project budget and deliverables, so you can make an informed choice. Once you return your Purchase Order form, your project manager will contact you to discuss the next steps.
2. Sample delivery
Sample specifications for whole exome sequencing are:
Purified DNA
- Validated input: 50-500 ng / sample
- Minimum volume: 20 µl / sample
- Quality: Column or bead purified DNA
For nucleid acid extraction services from FFPE material, please refer to our dedicated sample submission guide.
3. Sample entry QC
After sample arrival, Entry-QC is performed to determine the sample quality and quantity.
A report with the QC results will be provided and results and progression of the project can be discussed.
4. Library prep/QC and sequencing
A library QC will be performed to confirm sufficient library is generated in the sample prep and the library is of the required size.
Sequencing on Illumina NovaSeq 6000 (PE150):
- Standard Human all ExonV7 bait library
- Unique dual indexed sequencing adaptors
- Standard read depth 40M reads / sample
5. Data QC
The raw data that is generated by the sequencer must be divided to obtain one data file per sample. This is called demultiplexing.
Your project manager checks the data quality by analyzing the quality metrics of the run. Final inspection of the data takes place and the dataset is transferred into our portal. It is also possible to receive your data on a hard disk.
6. Reporting
You receive your Project Report together with your data. It contains an overview of the experimental methods used, sample specifications, and a summary of all technical information for publication. Deliverables:
- TAT: 2 weeks after successful sample QC
- FastQ files via secure e-transfer
- Quality score Q30 of ≥80% for PE150 reads
- Optional data analysis with comprehensive report
Trio sequencing
As a diagnostic strategy for Mendelian disorders, family-based WES can accelerate interpretation of results and disease. With trio sequencing, both the patient and their parents’ exomes are analyzed, the comparison resulting in the identification of de-novo mutations.
Data analysis
GenomeScan’s bioinformatics experts apply optimized pipelines for preprocessing (trimming and alignment to reference genome), as well as analyzing (variant calling and disease annotations) your dataset. With our customizable workflows, we help you receive reliable and publication ready results.
Service specifications
We have summarized key information about our whole exome sequencing service into a service specification sheet.
Technical information
In this TechNote, you can find information on procedure validation methods and results for our whole exome sequencing service.
Let's get the conversation started for your next NGS project
Please either fill in this form or email us directly at info@genomescan.nl
and we will get in touch with you to discuss your requirements
