Whole exome sequencing which targets the protein-coding regions of approximately 20,000 genes, is particularly beneficial for high-throughput genetic analysis of vast mutant groups, and enables to attain more in-depth sequencing insights with more effective and fewer data. No matter what field of study you are in, Novogene is a reliable partner to ensure your work meets the highest scientific standards with our rigorous bioinformatics analysis.
The following workflow contains these steps: sample preparation and quality control (QC), library construction and QC, sequencing, data QC and bioinformatics analysis, facilitating detailed dissection of genetic variations, and unraveling the intricate biological tapestry of human genome. Beyond our research-focused WES service, Novogene also qualified with CLIA/CAP/ISO17025 certifications, ensuring clinical diagnostics with unmatched accuracy and precision.
The workflow of whole exome sequencing
Sample Guidelines for WES
*For clinical WES samples from whole blood, buccal swabs, to saliva, more details can be found in Clinical Whole Exome Sequencing (CLIA/CAP).
Bioinformatics Analysis Pipeline of Standard Package
In summary, the cost-effectiveness makes WES often the preferred method to detect disease-associated variants in prenatal testing and newborn screening, as well as for the identification of rare diseases. And its targeted sequencing approach makes WES a very useful technique to determine hereditary cancer risk or to determine the mutational profile of tumors. Additionally, whole exome sequencing can also be used to explore the distribution and changes of genetic traits within populations to better understand the role of genetics in complex traits, such as susceptibility to certain diseases.
Novogene provides comprehensive whole exome sequencing with a high-quality, affordable and convenient solution with advanced WES analysis, making it possible for WES in a wide variety of applications. So, get ready and push the boundaries of what’s possible with Novogene’s WES services!
Pollard KS, Hubisz MJ, Rosenbloom KR, Siepel A. Detection of nonneutral substitution rates on mammalian phylogenies. Genome Res. 2010;20(1):110-121. doi:10.1101/gr.097857.109 (phyloP)
Rentzsch P, Witten D, Cooper GM, Shendure J, Kircher M. CADD: predicting the deleteriousness of variants throughout the human genome. Nucleic Acids Res. 2019;47(D1):D886-D894. doi:10.1093/nar/gky1016 (CADD)
Reva B, Antipin Y, Sander C. Predicting the functional impact of protein mutations: application to cancer genomics. Nucleic Acids Res. 2011;39(17):e118. doi:10.1093/nar/gkr407 (MutationAssessor)
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