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).
Exons make up 1 to 2% of the entire human genome, and yet 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
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.