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Whole Exome Sequencing

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Whole Exome Sequencing

CD Genomics has been providing the flexible and affordable whole exome sequencing service for couple of years. We employ Illumina HiSeq sequencing platform to obtain the genetic variations information in a more efficient way.

The Introduction of Whole Exome Sequencing

Human genome comprises approximately 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 a far lower cost than whole genome sequencing. Whole exome sequencing is thought to be an efficient and powerful way to identify the genetic variants that affect heritable phenotypes, including important disease-causing mutations and natural variations that can be used to improve crops and livestock.

Whole Exome Sequencing utilizes exome capture technology to enrich exons , and then sequences these regions in a high-throughput manner. To be specific, DNA samples are first fragmented and biotinylated oligonucleotide probes (baits) are used to selectively hybridize to exome in the genome. Magnetic streptavidin beads are then used to bind to the biotinylated probes. The non-targeted portion of the genome is washed away, and the PCR is used to enrich the sample for DNA from the target region. Subsequently, the sample is sequenced by the Illumina HiSeq platform. This strategy can result in up to a 100-fold improvement in gene coverage for the human genome. The validated sequencing data are then used for variant analysis and clinical statements.

Advantages of Whole Exome Sequencing

  • Lower cost and wide availability
  • Increased sequence coverage (above 120X)
  • Detection of coding single-nucleotide polymorphism (SNP) variants as sensitive as whole genome sequencing
  • A smaller data set for faster and easier analysis compared to whole genome sequencing
  • Medical and agricultural applications

Whole Exome Sequencing Workflow
CD Genomics employs the Illumina HiSeq system to provide the fast and accurate whole exome sequencing and bioinformatics analysis. Our highly experienced expert team executes quality management, following every procedure to ensure confident and unbiased results. The general workflow for whole exome sequencing is outlined below.

Service Specifications

Sample requirements and preparation

  • DNA amount ≥ 2 μg, DNA concentration ≥ 20 ng/μl, OD260/280=1.8~2.0.
  • We also accept cultivated cells, blood, tissues, FFPE (formalin-fixed, paraffin-embedded), and other samples.
  • All samples are validated for DNA purity and quantity.
  • Cost-effective library preparation and exome enrichment solution using TruSeq DNA Exome, Agilent SureSelect, or NimbleGen SeqCap kits.

  • HiSeq platform PE150, MGI DNBSEQ-T7/DNBSEQ-G400.
  • Standard sequencing coverage ≥ 50X; cancer sample ≥ 100X. More SNPs can be gained by increasing the coverage.
Bioinformatics Analysis
We provide customized bioinformatics analysis including:

  • Raw data quality control
  • Alignment with reference genome
  • SNP/InDel calling and statistics
  • Somatic SNP/InDel calling and statistics
  • Annotation
  • Advanced analysis: monogenic disorders, complex/multifactorial disorders, and cancer.

Analysis pipeline

CD Genomics provides full whole exome sequencing service package including sample standardization, exome capture, library construction, deep sequencing, raw data quality control, and bioinformatics analysis. We can tailor this pipeline to your research interest. If you have additional requirements or questions, please feel free to contact us.

Warr A, Robert C, Hume D, et al. Exome sequencing: current and future perspectives. G3: Genes, Genomes, Genetics, 2015, 5(8): 1543-1550.

* For Research Use Only. Not for use in diagnostic procedures.
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CD Genomics
CD Genomics-the genomics service company