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Whole Exome Sequencing (WES) Services

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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.

Service Applications of Whole Exome Sequencing

Population Genetics

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

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

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.

Whole exome sequencing (WES) offers an efficient and consistent approach to identifying genetic variants that impact protein sequences. WES is the genomic technique of preference for sequencing all of the protein-coding regions of genes in a genome (known as the exome).

Advantages

Increased possibility for identification of novel diseases

Targeted analysis for discovery -based studies

Commercially available exome panels

Increased throughput capabilities

Manageable datasets ready for analysis

Features

A number of different technologies are available (ie. Agilent SureSelect™)

World-Class Data quality generated within a CLIA/CAP environment

Comprehensive services across the entire NGS workflow, from extraction and library preparation to sequencing and bioinformatics

IAdditional insights from samples are available by using our Epigenomics, Spatial Transcriptomics and Histopathology services

Reliable, fast turnaround times available for all sequencing needs

Benefits

Eliminates unnecessary diagnostic tests by undergoing exome sequencing

Enables the identification of genetic mutations related to birth defects and developmental delays

Enables the determination of specific genetic irregularities and the cause of pre-identified issues in a particular protein

Detecting new genetic variations associated with health conditions which can aid future disease diagnosis

“SeqMatic exhibits the best in sequencing performance, customer service, and turnaround. My experience in getting several runs completed was an absolute pleasure, and I would recommend SeqMatic to anyone with sequencing needs!”

Customer F.G.

San Francisco, CA

Aldinger, Kimberly A., et al. “Spatial and cell-type transcriptional landscape of human cerebellar development.” Nature neuroscience 24.8 (2021): 1163.
Sifuentes-Dominguez, Luis F., et al. “SCGN deficiency results in colitis susceptibility.” Elife 8 (2019): e49910.
Nair, Anup K., et al. “Generation of Isogenic hiPSCs with Targeted Edits at Multiple Intronic SNPs to Study the Effects of the Type 2 Diabetes Associated KCNQ1 Locus in American Indians.” Cells 11.9 (2022): 1446.
Schupp, Patrick G., et al. “Clarifying the Transcriptional Profiles of Malignant Clones through Multiscale and Multiomic Analysis of Individual Tumors.” bioRxiv (2023): 2023-06.
Find other Research Publications from around the world!

Optimize Your Results

Solutions are custom-made according to research needs

Pre-Submission

Planning & Consultation – Assurance of de-identified sample submission and handling

Sample Submission

Nucleic Acid Extraction – We accept a wide range of sample types

Library Preparation

Library Generation – Amplified cDNA is used for sequence libraries’ construction

Sequencing

Different platforms for different data outputs

Data Analysis

Custom Bioinformatics

Whole Genome Sequencing (WGS)

PCR Amplicons & Plasmids

Service Portfolio

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