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).
Why sequence whole exomes?
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
1. Initial meeting
2. Sample delivery
- 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
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.
- 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
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.
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.
We have summarized key information about our whole exome sequencing service into a service specification sheet.
In this TechNote, you can find information on procedure validation methods and results for our whole exome sequencing service.
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