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CD Genomics is a world-leading genomics services company that continues to innovate in sequencing solutions for the genomics industry, covering genotyping, library construction, bioinformatics, microarrays, mutagenesis analysis, and more. CD Genomics is pleased to offer whole exome sequencing services, which can help scientists discover disease-related mutation sites more accurately.

Exomes are regions of DNA that are directly involved in protein-coding. The human genome has approximately 180,000 exomes, which are approximately 30 Mb in length, and the majority of disease-causing mutations among monogenic genetic diseases have been reported to be concentrated in the exome region. Whole Exome Sequencing (WES) is a method that uses sequence capture technology to capture and enrich exonic regions and untranslated regions (UTRs) with important regulatory functions for high-throughput gene sequencing.

Exomes are protein-coding regions of the human genome that can be captured and enriched for DNA using sequence capture technology. Although the exome region accounts for only about 1% of the whole genome, it contains 85% of disease-causing mutations. Compared to whole genome sequencing, whole exome sequencing is considered more economical and efficient.

This sequencing strategy is mainly used to identify and study variants within coding regions and UTR regions associated with disease development and population evolution. Combined with the exome data provided by a large number of public databases, CD Genomics can better interpret the relationship between the resulting variants and diseases.

What are the application directions for whole exome sequencing?

1. Single-gene genetic disease

Finding the causative loci of single-gene genetic diseases is one of the most important applications of whole exome sequencing. At the moment, whole exome sequencing has been used successfully in the study of several monogenic genetic diseases, including Miller syndrome, Kabuki syndrome, and severe craniocerebral malformation.

2. Complex diseases

For cancerous and complex diseases, highly relevant genetic mutations can also be observed by whole exome sequencing.

3. Cancer

Mutations within the entire exon region of cancerous genomes are more likely to induce tumor development. Accurate detection of SNV and InDel through whole exome sequencing can efficiently analyze cancer susceptibility and disease-causing genes, providing a reliable method for cancer genome research.

“We deliver fast and accurate whole-exome sequencing and bioinformatics analysis with the Illumina HiSeq System. Our highly experienced expert team executes quality management, following every procedure to ensure confident and unbiased results,” stated CD Genomics’s executive vice president.

“Our philosophy is to accelerate the development of the biotechnology industry toward breakthrough discoveries. For many years, CD Genomics has remained committed to providing comprehensive sequencing and analysis services to research institutions and biotechnology companies,” he further added.

About CD Genomics

CD Genomics is a genomics service provider well-known for providing reliable sequencing and bioinformatics analysis services, aiming to deliver high-quality next-generation sequencing, third-generation sequencing, and microarray services for the research community. 

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Address: Shirley, NY 11967, USA

Email: contact@cd-genomics.com