Whole Exome Sequencing Services: Illustration of DNA WES Code Variant Identification

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.

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Population Genetics

Genetic Disease Research

Cancer Studies
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. 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. 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).

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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

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Whole Genome Sequencing (WGS)
PCR Amplicons & Plasmids

Service Portfolio

Sequencing Platforms

DNA Sequencing

RNA Sequencing

Single-Cell RNA Sequencing

Pre-Clinical & Clinical Services

General Services

Epigenome Sequencing

Histopathology

Spatial Transcriptomics

Bioinformatics

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