GENEQUALITY Whole Exome Sequencing (WES) | Viet Huy

GENEQUALITY Whole Exome Sequencing (WES) is a whole exome sequencing solution developed by AB ANALITICA and CE-IVD certified under EU Regulation 2017/746 (IVDR). The product complies with international quality and safety standards and is suitable for medical use. WES is now available in Vietnam and promises to become an indispensable tool for molecular diagnostics laboratories.

What Is Whole Exome Sequencing (WES)?

In modern medicine, Whole Exome Sequencing (WES) is an advanced DNA sequencing technology that focuses on analyzing all of the exons in the genome, known as the protein-coding regions of the genome, and has become an indispensable tool in the diagnosis and research of genetic diseases. WES analyzes the entire exon region of the human genome, which accounts for only about 1% of the total genome yet contains more than 85% of disease-causing mutations¹. This enables accurate and efficient genetic diagnosis, opening up opportunities for precision medicine and personalized healthcare.

Figure 1: A DNA strand consists of alternating intron and exon regions. During transcription, introns are removed and exons are spliced together to form a complete messenger RNA (mRNA) strand.

Learn more in An Overview of Whole Exome Sequencing (WES)!

What Is GENEQUALITY Whole Exome Sequencing (WES)?

GENEQUALITY Whole Exome Sequencing (WES) is a WES solution developed by AB ANALITICA that holds CE-IVD certification under EU Regulation 2017/746 (IVDR). The product complies with international quality and safety standards and is suitable for medical use. GENEQUALITY® WES is now available in Vietnam and promises to deliver outstanding value to molecular diagnostics laboratories.

Sequencing Coverage of GENEQUALITY Whole Exome Sequencing (WES)

The coverage of GENEQUALITY® Whole Exome Sequencing (WES) across genetic databases ensures optimal detection of disease-associated genetic variants:

Figure 3: Coverage of GENEQUALITY® WES (GQ WES) across genetic databases2

Key Features of GENEQUALITY Whole Exome Sequencing (WES)

Accurate and Efficient DNA Library Preparation

High-quality DNA library preparation reagents are used, requiring 10 to 500 ng of input DNA per sample and optimizing processing time and cost. The procedure uses enzymatic DNA fragmentation, ensuring high sensitivity and accuracy in capturing target sequences.

Broad and Optimized Sequencing Coverage

The sequencing panel covers approximately 42 Mb of the genome, with 19,441 genes, including mitochondrial DNA. This allows researchers and clinicians to comprehensively explore whole genome sequencing and whole exome sequencing for rare genetic diseases.

Detection of Diverse Genetic Variant Types

It can detect many types of genetic variants such as SNV, InDel, CNV, and other mutations, with an analytical sensitivity of 95.81% and a specificity of up to 99.99%, ensuring that every important variant is accurately detected and reported.

Superior Sequencing Performance

Validated on next-generation sequencing platforms such as Illumina NovaSeq6000, NextSeq500/550, it achieves an average coverage depth of ~100X and uniformity above 97.84% for genomic DNA and 99.98% for mitochondrial DNA, ensuring high quality in every sequencing run.

Integration of Data from Major Databases

Integrating the decoded data with major databases such as ClinVar, OMIM, and HGMD provides accurate information on disease-associated genetic variants, supporting accurate in vitro diagnosis on a solid scientific basis.

Workflow with GENEQUALITY Whole Exome Sequencing (WES)

Step 1: DNA Sample Preparation

The input sample source is whole blood for DNA extraction, ensuring high-quality DNA in amounts of 10 to 500 ng, optimized for sequencing procedures.

Step 2: DNA Library Preparation

Using the GENEQUALITY library preparation kit for the Illumina platform, this step includes DNA fragmentation and sequencing library preparation according to the manufacturer's instructions, ensuring high sensitivity and specificity.

Step 3: Sequencing and Result Analysis

The DNA library is sequenced on systems such as the Illumina NovaSeq, after which the data are analyzed by experts, providing valuable information on genetic variants and supporting accurate genetic diagnosis and the advancement of precision medicine.

Figure 2: The GENEQUALITY® WES workflow consists of two main parts: pre-amplification and post-amplification of the sequencing library.

Clinical Applications of GENEQUALITY Whole Exome Sequencing (WES)

Diagnosis of Genetic Diseases

GENEQUALITY WES helps identify disease-causing genetic variants in monogenic or polygenic disorders such as rare diseases, supporting physicians in making accurate diagnoses and planning appropriate treatment.

Disease Research

Researchers use WES to discover new disease mechanisms and, in turn, develop more effective treatments, contributing to genetic and genomics research.

Personalized Medicine

Genetic information from WES helps tailor therapies to each patient's unique genetic makeup, improving efficacy and minimizing side effects, in line with the current trend toward precision medicine.

Monitoring Disease Progression

WES supports monitoring of genetic changes associated with the progression of genetic diseases and evaluation of treatment efficacy over time, providing accurate data for healthcare.

Comparing GENEQUALITY Whole Exome Sequencing (WES) with Other Exome Sequencing Products

GENEQUALITY WES not only meets international quality and safety standards but also excels in sequencing coverage, the ability to detect diverse variants, and the integration of data from major databases. Compared with other WES products on the market, GENEQUALITY WES delivers higher clinical value and better supports the diagnosis and research of genetic diseases.

GENEQUALITY Whole Exome Sequencing (WES) Supplier in Vietnam

In Vietnam, GENEQUALITY Whole Exome Sequencing is distributed by VIET HUY Technological Scientific Equipment Co., Ltd, which provides professional support and consulting services to laboratories and healthcare facilities. For more information and to place an order, customers can contact us via:

• Phone: 0913 605 512

• Email: info@viethuy.vn

• Website: www.viethuy.vn

Why Choose GENEQUALITY Whole Exome Sequencing (WES)?

1. CE-IVD Certification: Meets the EU 2017/746 (IVDR) standard, ensuring credibility and quality.

2. High Sensitivity: Accurately detects disease-associated variants.

2. Superior Performance: Ensures high coverage and uniformity on leading sequencing platforms.

4. Data Integration: Connects with major databases such as ClinVar, OMIM, HGMD to enhance diagnostic quality.

5. Broad Applications: Suitable for both research and clinical laboratory settings, broadly supporting genomic medicine and non-gene-based treatment.

Conclusion

GENEQUALITY Whole Exome Sequencing (WES) by AB ANALITICA is an important step forward in molecular medicine, providing a comprehensive and accurate solution for clinical genomic analysis. With its ability to detect diverse genetic variants and its strict compliance with the CE-IVD standards under EU Regulation 2017/746 (IVDR), GENEQUALITY Whole Exome Sequencing (WES) is the ideal choice for laboratories and medical professionals seeking accuracy and efficiency in genetic diagnosis and genetic disease research.

Experience GENEQUALITY Whole Exome Sequencing (WES) today and discover the potential of whole exome sequencing!

Contact Us

VIET HUY Technological Scientific Equipment Co., Ltd

• Phone: 0913 605 512

• Email: info@viethuy.vn

• Website: www.viethuy.vn 

References

1. National Human Genome Research Institute. Whole Exome Sequencing. Retrieved April 20, 2024, from https://www.genome.gov/search?terms=Whole-Exome-Sequencing

2. https://microbenotes.com/whole-exome-sequencing/