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.
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