Whole Exome Sequencing for Variants Analysis

Creative Biolabs has developed a cutting-edge SuPrecision™ platform for whole exome sequencing (WES), which is focused on coding regions of the genome. Our scientists have exploited a comprehensive service package for germline variant and somatic variant analysis, including genotyping, variant calling, annotation, and prioritization. We can provide this one-stop solution service for variant analysis at the most competitive cost.

The Correlation Between Cancer and Variants

In cancer studies, it is important to distinguish somatic from germline variants as the two classes of variants often play distinct roles in tumor development. The DNA of a patient’s cancer also contains the full range of that individual’s inherited (germline) genetic variation, unless it has been altered or lost through mutagenesis. Germline variants are inherited mutations present in the germ cells, which are related to patient family history. Germline variants that affect the expression or function of proteins contribute to phenotypic variation in humans and likely determine individual characteristics and susceptibility to diseases including cancer. The presence of germline variants can complicate the effort to identify targetable “driver” mutations in a patient’s cancer. Somatic variants are mutations that are present only in somatic cells and can be tissue-specific. Cancer is in large part a genetic disease in the sense that somatic mutations in tumor DNA contribute substantially to the malignant phenotype. Massively parallel sequencing makes it practical to define the spectrum of mutations in individual cancer. Clinical researchers and practicing oncologists use tumor mutation profiling to guide treatment decisions and to determine patient eligibility for studies of targeted agents.

Variant Analysis Service at Creative Biolabs

Creative Biolabs has developed a comprehensive service package for germline variant and somatic variant analysis, including genotyping, variant calling, annotation, and prioritization. Our scientists also have exploited a novel computational method for detecting somatic variants using high throughput sequencing data from paired tumor-normal tissue samples and unpaired tissue samples.

Key Advantages of Variant Analysis Service Include but Are Not imited to:

• Germline variant analysis
• Somatic variant analysis
• One-stop solution from sample processing to variant analysis
• An in-house novel algorithm for accurate variant analysis
• Comprehensive data set
• Extensive experience with sample processing and sequencing

Equipped with world-leading technology platforms and professional scientific staff in WES, Creative Biolabs has provided our global customers professional sequencing services for many years. Through our one-stop solution system, we can offer high-quality service of variant analysis at the most competitive price.

Please contact us for more information and a detailed quote.

Reference

1. Bao, R.; et al. Review of current methods, applications, and data management for the bioinformatics analysis of whole exome sequencing. Cancer Inform. 2014, 13(Suppl 2):67-82.

Resources

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Podcast

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  Introduction of NGS

  A brief introduction of NGS related information.

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2. Whole Exome Sequencing for Structural Variants Detection
3. Whole Exome Sequencing for Copy-Number Variants (CNVs) Detection
4. Whole Exome Sequencing for Tumor-Specific Neoantigens Discovery
5. Personal Tumor-Specific Neoantigen Vaccine Development
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