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Whole Exome Sequencing for Rare Diseases

Analysis of the protein-coding regions of the genome can help reveal genetic influences on disease and population health. Our company is committed to establishing cutting-edge sequencing platforms to provide customers with the best rare disease whole-exome sequencing (WES) services. Our complete bioinformatics solutions help you explore the pathogenic mechanisms of rare diseases and find causative and susceptibility loci that are significantly associated with the disease.

Whole Exome Sequencing

Exons refer to the coding regions of proteins and contain important information required by organisms to synthesize proteins. Although the sequence length of the human exon accounts for less than 2% of the genome, approximately 85% of disease-related variants are located in this region. Therefore, a genome analysis method that uses sequence capture technology to capture and enrich exon regions of the genome and then perform high-throughput sequencing, namely WES, is of great significance for the detection of causative genes of many rare diseases.

WES can comprehensively detect and analyze the information of about 20,000 genes in known coding gene exon regions. With the advantages of efficient and comprehensive detection, high diagnostic rate, and high cost performance, WES plays an important role in the clinical diagnosis of rare genetic diseases, especially single gene genetic diseases. In addition, WES can not only detect existing diseases, but also find the pathogenic genes or new mutation sites of unknown diseases through data reanalysis, which is of great significance in improving the diagnostic rate, discovering new genes, diagnosis of late-onset disease, and pharmacogenomics.

Fig. 1 Mirrored Manhattan plot showing -log10 Ps for WES single-variant tests (bottom) and WES rare-variant tests (top).

Fig. 1 Mirrored Manhattan plot showing −log10 Ps for WES single-variant tests (bottom) and WES rare-variant tests (top). (Bomba L, et al., 2022)

Our Whole Exome Sequencing Services

Researchers at our company have accumulated extensive experience in the execution of WES and the bioinformatic analysis of sequencing results. We provide customers with complete WES solutions, including experimental design, sample inspection, library preparation, exon enrichment and sequencing, and detailed bioinformatic analysis. Our comprehensive services help customers accurately detect rare variants in the protein-coding regions of the genome, accelerating the discovery of mutations and pathways associated with rare diseases. Our services include, but are not limited to:

  • DNA isolation for next-generation sequencing (NGS)
  • Preparation and quality control of sample and library
  • Human exome sequencing and data quality control
  • Exome-seq analysis
    Alignment to a reference genome
    SNP and InDel calling
    Somatic SNP/InDel/CNV mutation detection
    Annotation and statistics of rare disease-associated variants
    Candidate site analysis
Fig. 2 WES workflow at Our company.

Fig. 2 WES workflow at our company.

Our Advantages

  • Identification of coding variants across various applications
  • Comprehensive coverage of coding regions
  • Customizable depth of coverage for detecting rare variants
  • Accurate and rapid analysis of exome sequencing data across a wide range of applications with user-friendly bioinformatics tools

Combining an experienced research team, professional genomics detection platforms, and advanced machine learning capabilities, our company has the strength to provide comprehensive WES services for each rare disease patient. We customize personalized solutions and analysis processes according to your different scientific research needs and track the progress of projects in real-time to accelerate your scientific discovery. If you are interested in our service, please contact us for more details.


  • Bomba, L.; et al. Whole-exome sequencing identifies rare genetic variants associated with human plasma metabolites. The American Journal of Human Genetics, 2022.

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.

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