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Whole Exome Sequencing (WES)

Creative Proteomics relies on advanced sequencing systems and cutting-edge technologies to provide whole exome sequencing (WES) services to customers around the world, helping you achieve breakthroughs in the research of single-gene genetic diseases, complex diseases, rare diseases, pharmacogenomics, population cohorts, tumors, etc.


Whole Exome Sequencing (WES)

Whole exome sequencing (WES) is a genome analysis method that uses target sequence capture technology to capture and enrich the DNA of the whole genome coding gene exon region, and then perform high-throughput sequencing. Similar to whole genome resequencing in terms of specific applications, a large number of SNPs / InDel / LOH / CNV / SV can be found through sequencing. However, whole-exome sequencing (WES) is more economical and efficient. Whole exome sequencing (WES) is primarily used to identify and study variants within coding and UTR regions associated with disease and population evolution.

Technical advantages of whole exome sequencing (WES):

  • It only detects DNA in the exon region, the target region is more specific, the coverage is deeper, the data accuracy is higher, and it is more economical, especially for the analysis of a large number of samples.
  • High-depth sequencing to find rare variants with variant frequencies below 1%.

Applications of targeted region sequencing include, but are not limited to:

  • Explore the pathogenic mechanisms of Mender diseases and complex diseases and find pathogenic and susceptibility loci that are significantly associated with the disease.
  • Tumor genome research
  • Pharmacogenomics research
  • Population cohort study

Advantages of Our Whole Exome Sequencing (WES)

  • Rich technical experience: We have a strong technical team with many years of technical development experience.
  • Strong analytical ability: We have a professional bioinformatics analysis team to provide you with comprehensive analysis services.
  • Comprehensive and fast service: We have a complete biotechnology service system and can provide follow-up services for your follow-up experiments.
  • Flexible experimental platform: We now have multiple platforms based on Illumina, Agilent and BGI, and we can flexibly use the advantages of different experimental platforms according to the purpose and requirements of the experiment.
  • Cost-effective: We provide you with the most comprehensive services at the most favorable price to help you effectively save experimental costs.

Service Workflow

For whole exome sequencing (WES) of experimental samples, we followed the basic workflow shown below. At the same time, Creative Proteomics has developed a variety of new sample preparation technologies, and we will adjust the experimental methods and optimize the experimental conditions according to the different properties of the samples.

Service Workflow of Whole Exome Sequencing (WES) -Creative Proteomics

Sample Requirements

  • DNA: amount ≥ 4 μg, concentration ≥ 50 ng/μl, OD260/280 = 1.8~2.0. Genomic DNA was solubilized with TE.
  • Freshly cultured cells: number of cells ≥ 5×106 cells
  • Fresh animal tissue dry weight: ≥ 50 mg
  • Whole blood (mammalian): ≥1 mL, collect with EDTA anticoagulant tube.
  • Saliva: ≥ 1 mL
  • FFPE: ≥ 10 pieces, unstained, 100 mm2, 5 ~ 10 μm thickness.

Bioinformatics Analysis

Analysis type Analyze content
Basic bioinformatics analysis
  • Raw Data
  • Preprocessing
  • Mapping genome
  • Variation detection of SNP / InDel / Sv
  • Statistics of coverage, sequencing depth, etc.
Advanced bioinformatics analysis


  • Mutation screening of known cancer genes
  • High frequency mutation gene
  • Mutation site distribution analysis
  • Circos diagram display of genomic variation
  • Correlation analysis of high frequency mutation genes
  • High frequency CNV analysis
  • Tumor purity and ploidy analysis
  • Distribution of LOH in the genome
  • Intratumoral heterogeneity and clonal structure analysis
  • Analysis of fusion genes and high-frequency fusion genes
  • Analysis of high frequency mutations in noncoding regions
  • Virus integration analysis

Monogenic disease

  • Mutation site screening
  • Screening for dominant/recessive inheritance patterns
  • Candidate gene functional annotation
  • GO/KEGG enrichment analysis of candidate genes
  • Homozygous region analysis

Complex disease

  • Screen known candidate genes
  • Mutation screening and functional prediction of candidate genes
  • Functional annotation of candidate genes
  • De novo mutation screening and analysis
  • GO/KEGG enrichment analysis of candidate genes
  • Protein Interaction Network Analysis (PPI)
  • Linkage association analysis of pedigrees or natural groups
  • Genome-wide co-occurrence/mutual exclusion analysis of variants
Customized bioinformatics analysis Please contact our technical engineers to discuss custom analysis.

Creative Proteomics provides detailed whole exome sequencing and analysis services, please contact us for more information. We deserve your trust.

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