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Whole Exome Sequencing

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Whole Exome Sequencing

CD Genomics is dedicated to providing a viable and cost-effective alternative to Whole Genome Sequencing, Whole Exome Sequencing (WES). We employ advanced exome enrichment strategy and novel bioinformatics analysis to help you obtaining the genetic variations information in a more efficient way.

Human genome comprises about 3 X 109 bases, and contains approximately 180,000 coding regions (exome), constituting about 1.7% of a human genome. It is estimated that 85% of the disease-causing mutations occur in the exome. For this reason, sequencing of the whole exome has the potential to uncover higher yield of relevant variants at far lower cost than whole-genome sequencing is, which is thought to be an efficient and powerful way to investigate the genetic cause of both Mendelian and common diseases such as cancer and diabetes.

Whole Exome Sequencing (WES) utilizes sequence capturing or targeting technology to enrich and then to sequence the exome regions of whole genome. DNA samples are fragmented and biotinylated oligonucleotide probes (baits) are used to selectively hybridize to exome in the genome, magnetic streptavidin beads are used to bind to the biotinylated probes, the non-targeted portion of the genome is washed away, and the samples for DNA are enriched by PCR. The sample is then sequenced before proceeding to bioinformatics analysis. This strategy can result in up to a 100-fold improvement in gene coverage for the human genome. The workflow for WES is illuminated in Figure 1. Generally, the captured on-target exome represents 75% of the sequencing raw data.

Schematic workflow of whole exome sequencing Figure 1. Schematic workflow of whole exome sequencing.

CD genomics is providing a variety of enrichment solutions produced by Agilent, Illumina or Nimblegen, 150 bp paired-end sequencing approach, and extensive data analysis solution for accurate SNPs and indels detection. While the greatest interest for WES tends to be human genome, we also provide mouse exome sequencing service.

Sequencing Strategy and Recommended Sequencing Depth:

Sequencing with Illumina HiSeq PE 150. Standard sequencing coverage ≥50X; cancer sample≥150X. More SNPs can be gained by increasing the coverage.

Turnaround time

Standard turnaround time is 30 working days from sample QC verification to raw data availability.

Sample Requirement

Genomic DNA from human or mouse tissues. The recommended DNA amount for submission is 5 µg or more with a concentration of ≥ 50 ng/µl.

Data Analysis

Our data analysis includes location distribution of fragments, depth distribution, SNV annotation, variation detection and annotation (SNP/InDel/CNV), pathway analysis and function annotation, fusion gene annotation.


  • Identification of rare genetic variants
  • Disease association studies
  • Genetic marker development
  • Determination of important disease-related variations
  • Profile low-frequency genotypes at the population level

Benefits and Features:

  • Exceptional data quality
  • Availability of major exome capturing technologies
  • Unmatched customer services
  • Cost effective
  • Customized capture approaches and data analysis solution
  • Customizable depth of sequencing coverage

Our whole exome sequencing package offers comprehensive package start from project consultation and experimental design to advanced bioinformatics service. We are very flexible, and our services can be customized to fit your project needs, including customizable analysis specifically tailored to your needs. We always devote ourselves to providing you with the best and professional WES services.

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