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Targeted Resequencing for Rare Diseases

Targeted resequencing offers the possibility to sequence regions of interest and interrogates known disease-causing genes that are appropriate to the phenotype. Our company is committed to providing customers with cost-effective targeted resequencing services to help customers detect and analyze their selected rare disease gene(s) of interest. Our complete solutions will help you obtain high-quality data and achieve publishable results for your research goals.

Targeted Resequencing

Targeted resequencing refers to the use of special probes to enrich the DNA or a specific sequence of the protein-coding region of interest, and then perform deep sequencing and data analysis of the target region through the targeted method of next-generation sequencing (NGS). This strategy greatly improves the research efficiency of target regions in the genome and significantly reduces research costs. Such targeted analysis includes the exome, specific genes of interest, and target regions in genes or mitochondrial DNA.

Targeted resequencing has proven promising in studying rare genetic variants in humans, achieving a sensitivity completely unattainable by whole-genome sequencing. Since targeted resequencing separates and enriches the target region of the gene before sequencing, the substantial reduction of the target region can achieve a sequencing depth of 5000× or even higher, which is very useful for the rapid screening of variant sites to explain the pathogenesis of rare diseases. At present, targeted resequencing has been widely used in many fields from basic research to clinical diagnosis and application market, which is crucial for the continuous progress of precision medicine.

Fig. 1 Methods of DNA-seq.

Fig. 1 Methods of DNA-seq. (Bewicke-Copley F, et al., 2019)

Our Targeted Resequencing Services

Targeted resequencing allows researchers to focus on regions most likely to be involved in the phenotype under study, which provides a powerful tool for generating smaller and more manageable datasets for rapid screening of variant sites. Our company is committed to providing customers with cost-effective targeted resequencing services to accelerate their rare disease-related scientific research. We mainly provide two technical routes: amplicon sequencing and enrichment sequencing.

  • Amplicon-based targeted resequencing
    We use ultra-deep sequencing of PCR amplicons to target specific genomic regions, a more economical and faster workflow. Our highly advanced multiplex PCR primer design algorithms and exceptionally uniform multiplex PCR amplification chemistry allow for extremely high sensitivity, more accurate variant calling, and lower sequencing costs.
  • Enrichment-based targeted resequencing
    We help customers design sequence-specific hybridization probes to capture regions of interest and perform high-throughput sequencing. Our enrichment sequencing service enables larger gene content panels and more comprehensive analysis of all variant types.

We use the above two highly multiplexed methods to help customers detect and screen genetic variants in rare disease patients, including copy number variations (CNVs), single nucleotide variations (SNVs), small insertions and deletions (Indels), gene fusions/splicing variations, internal tandem duplication (ITD), microsatellite instability (MSI), tumor mutational burden (TMB), etc.

Fig. 2 Targeted DNA sequencing workflow at our company.

Fig. 2 Targeted DNA sequencing workflow at our company.


  • Discovery of genetic biomarkers related to rare disease status
  • Genotyping and classification of cell lines
  • Design of gene testing, such as pharmacogenomics
  • Characterization of genetic associations with the specific phenotype

Our Advantages

  • Ongoing and dedicated support from experienced scientists
  • Availability of state-of-the-art sequencing platforms
  • Extensive multiplexing flexibility
  • Cost-effective service

Our company's targeted resequencing services provide customers with a cost-effective and convenient solution. Our targeted resequencing service is a simplified workflow by a group of specially trained and experienced scientists. If you are interested in our service, please contact our technical support team and we will be happy to work with you to customize your project solutions.


  • Bewicke-Copley, F.; et al. Applications and analysis of targeted genomic sequencing in cancer studies. Computational and structural biotechnology journal, 2019, 17: 1348-1359.

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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