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Whole Exome Sequencing

Reliable coverage of protein-coding regions
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Why sequence whole exomes?

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).

Mirjam Rademaker Whole Exome Sequencing
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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

Whole Exome Sequencing Resources



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Service workflow

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.

WES product specification Whole Exome Sequencing
Service specifications

We have summarized key information about our whole exome sequencing service into a service specification sheet.

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WES TechNote Whole Exome Sequencing
Technical information

In this TechNote, you can find information on procedure validation methods and results for our whole exome sequencing service.

Read the note

Other Services

Whole Genome Sequencing
Long Read Sequencing
Targeted proteomics panel
Total transcriptome
Single cell sequencing
Gene expression profiling

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