Whole Exome Sequencing

Reliable coverage of protein-coding regions

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By an average 100x sequencing coverage of each nucleotide and including all protein coding regions, 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 (WES)

Exons make up 1 to 2% of the entire human genome, and yet harbor the majority of mutations that are associated with disease phenotypes. Diagnostic processes that utilize sequencing focused on these regions can therefore obtain results more effectively.

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Full coverage of protein-coding regions
GS check icon Product Page   Whole Exome Sequencing
Generates small set of data for easy functional interpretation
GS check icon Product Page   Whole Exome Sequencing
Low costs for sequencing, data storage and analysis
GS check icon Product Page   Whole Exome Sequencing
Strong reliability enabled by high sequencing depth
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Fast results
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Broad insights when a phenotype does not show association to a known mutation

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

We have summarized key information about our whole exome sequencing service into a product specification sheet, which you can download here.

Discuss your project with Andre

We have years of experience in the field. Talk with us about best practices and how we can help your research.

Pricing

Competitive pricing for unmatched quality

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Andre Wijfjes

Manager Customer Support