Description of Whole Exome Sequencing
Whole Exome Sequencing (WES) focuses on protein-coding genes to identify etiological variants in diseases such as hereditary genetic disorders and cancer. This service provides a cost-effective alternative to whole genome sequencing with a high-quality, affordable and convenient solution.
CD Genomics provides a full whole exome sequencing service package including sample standardization, exome capture, library construction, deep sequencing, raw data quality control, and bioinformatics analysis. Through a comprehensive testing you can develop a personalized prevention, health management plan and precise medication guidelines. We can tailor this pipeline to your research interest.
Highlights of Whole Exome Sequencing Service
- A smaller data set for faster and easier analysis, increased sequence coverage (> 120X), lower cost compared to whole genome sequencing.
- SNVs, indels, and even low frequency variations can be detected.
- Strict quality control throughout the pipeline workflow to ensure the accuracy and repeatability of the sequencing.
- Fast turnaround time.
Applications of Whole Exome Sequencing
- Disease risk test
- Precise medication guidelines
- Personalized health management plan and disease prevention
- Cancer related mechanism studies
- Biomarker discovery
- Drug target discovery
- Discover rare mutations and detect low frequency mutations
Service Specifications
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Sample Requirements
- Sample types for genome DNA from tissues, whole blood, saliva, cultured cells, and formalin-fixed paraffin-embedded (FFPE) tissues.
- Recommended amount: 2μg
- Collection: Blood is collected by routine blood collection and saliva is collected by saliva collection kits. DNA samples are stored in TE buffer or equivalent.
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Sequencing
- Illumina PE150
- Enrichment Method: Hybridization capture
- More than 80% of bases with a ≥ Q30 quality score
- Recommended sequencing depth: For Mendelian disorder/rare disease: ≥50×; For tumor sample: ≥100×
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Bioinformatics Analysis
We provide customized bioinformatics analysis including:
- Read alignment
- Variant calling/Annotation
- Advanced analysis
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Gene Panel Workflow
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.
For more information about the whole exome sequencing or need other amplification requirements, please contact us.
Reference:
- Warr A, et al. Exome sequencing: current and future perspectives. G3: Genes, Genomes, Genetics, 2015. 5, 1543-1550.
* For Research Use Only. Not for use in diagnostic procedures.
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