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Rare Disease Target Identification Service

Identification of Human Rare Disease Genes

Advances in genetic and genomic techniques have provided potential tools for the study of many rare diseases. Our company is committed to the continuous improvement of the accuracy and affordability of high-throughput technologies to help customers identify gene variants related to rare diseases, accelerate customers' research on the molecular mechanism of rare diseases, allow better disease management, and even open up avenues for treatment.


Research into the field of molecular and genetic mechanisms under Mendelian conditions and the achievements made have demonstrated that mutations cluster in individual genomes and can cause human disease in a range of allelic patterns, including single allele (dominant), double alleles (recessive), triple alleles, multiple alleles and more complex patterns of inheritance. Monogenic genetic disorders are only a part of various rare diseases and many more complex rare polygenic genetic diseases have not been fully understood. For these diseases, testing at the genomic level is certainly a promising option.

Over the past two decades, the development of a variety of genetic and genomic technologies, such as karyotyping, chromosomal microarray analysis (CMA), whole genome sequencing (WGS,) and whole exome sequencing (WES) have enabled the rare disease research field to charge toward disease locus and gene discovery. Scientists have obtained a wealth of data concerning phenotypes with established molecular aetiology and a phenotype-causing variant. The remarkable progress made in the field of disease gene identification has provided valuable insights into human disease and health.

Fig. 1 Challenges in identifying causal variants using genome or exome sequencing and the alternate approaches.

Fig. 1 Challenges in identifying causal variants using genome or exome sequencing and the alternate approaches. (Marwaha S, et al., 2022)

Our Rare Disease Gene Identification Services

Our Advantages

  • High-throughput sequencing platforms
  • Biological interpretation expertise
  • Flexible solutions and one-stop services

Our company has established high-throughput sequencing platforms to provide customers with identification services for rare disease genes. Our high-quality data and ability to accurately interpret reports will contribute to your understanding of the complex molecular mechanisms of rare diseases. If you are interested in our services, please contact us for more information.


  • Marwaha, S.; et al. A guide for the diagnosis of rare and undiagnosed disease: beyond the exome. Genome Medicine, 2022, 14(1): 1-22.

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