Whole Exome Sequencing Services

Whole Exome Sequencing (WES) Services

Home > Services > Whole Exome Sequencing (WES)

Whole Exome Sequencing Services

DNA Efficient Coding Variant Identification

Whole Exome Sequencing Services (WES) is a powerful tool in genomic research. It focuses on the protein-regions of the genome. These regions contain the majority of variants which can be related to diseases. Consequently, SeqMatic offers comprehensive exome sequencing services within a CLIA/CAP certified laboratory environment, catering to both research and clinical demands. Furthermore, exome sequencing is used in large scale applications such as population genetics, genetic disease research, and cancer studies.

Applications of Whole Exome Sequencing

Population Genetics

In population genetics, WES presents advantages such as scalability and enhanced
data accuracy through extensive coverage of coding regions. These factors facilitate
large-scale genomics, where the obtained sequencing information can be utilized to
evaluate medical conditions that have a significant impact on healthcare, like
hereditary breast and ovarian cancer syndrome (HBOC), familial hypercholesterolemia
(FH), and Lynch syndrome (LS), to name a few examples.

Genetic Disease Research

In genetic disease research, WES offers significant advantages for identifying
genetic mutations associated with birth defects, developmental delays, and rare
Mendelian disorders. By targeting protein-coding regions of the genome as well as
untranslated regions (UTRs) and intron-exon boundaries in certain cases, WES is a
scalable approach. WES has a higher diagnostic rate compared to traditional molecular
tests, such as single gene sequencing, small gene panels, or chromosomal microarrays
for rare Mendelian disorders.

Cancer Studies

In cancer investigations, extensive sequencing information is employed for tumor
analysis. WES plays a crucial role in determining patient groups at an elevated risk
for specific cancers, as it offers a comprehensive view of genetic anomalies
influencing tumor development, such as microsatellite instability and detectable
inheritable mutations. As a multifaceted tool, exome sequencing allows for the
concurrent observation of diverse genomic alterations in cancerous tissue.
Furthermore, depending on research requirements, cancer exome sequencing content can
be broadened to encompass untranslated regions and microRNA (miRNA) binding sites.