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Genomic Analysis Service

Genomic analysis involves analyzing the structure, function, evolution and mapping of genome to unravel the complexities of individuals at DNA molecular level, which has opened up a new landscape in the diagnosis of rare diseases. Our company provides convenient sequencing and in-depth analysis services to help you quickly grasp genetic information related to rare diseases.

Genomics in Rare Disease

Genomics enables in-depth study of every detail of the genome of patients with rare diseases to find out rare genetic variants that may cause diseases, understand pathological mechanisms, and even discover new associations between genetic variants and diseases. The interdisciplinary application of comparative genomics, functional genomics, structural genomics and population genomics has made great progress in revealing the genetic mechanism of rare diseases.

Genomic Analysis Service-1Fig.1 The Workflow of NGS-Based Genetic Testing in Rare Disease Diagnosis (Liu, Z, et al., 2019)
  • Comparative Genomics in Rare Diseases
    By comparing the genomes of affected and non-affected people, researchers identify the genes that cause rare diseases, and the relationship between gene mutations and different subtypes of a particular rare disease, so as to provide reference information for diagnosis. For example, by using comparative genomics, the deletions in the genes associated with α- and β-Thalassemia can be identified.
  • Functional Genomics in Rare Diseases
    Based on the structure genomics, functional genomics focuses on specific gene functions under the guidance of intrinsic genetic information, deepening the understanding of gene-protein interactions and cell signaling, such as the application of functional genomics to the identification of cellular responses in CFTR function assays in respiratory epithelial cells of patients with cystic fibrosis (CF).
  • Structural Genomics in Rare Diseases
    After the genome of a given organism has been sequenced, some of the coding sequences are used to construct the specific 3D structure of the corresponding protein in order to dissect the function, interaction and pathogenic mechanism of the protein. Just as the base mutations at different sites in the gene encoding hydroxymethylbilane synthase lead to variations in the protein structure, resulting in diverse severity of acute intermittent porphyria (AIP).
  • Population Genomics in Rare Diseases
    Population genomics has played an important role in deciphering the transmission and evolution of rare diseases. It provides a foundation for understanding why specific genetic mutations in some rare diseases may be more prevalent in specific geographic regions or populations. Certainly, population genomics can elucidate the reasons that Wilson's disease is more common in Europe, while Niemann-Pick disease is more common among particular populations in the United States.

Our Services

The application of genomic analysis has advanced the research and diagnosis of rare diseases. Our company has a mature diagnostics development system that provides you with a top-notch scientific team to support the genomic analysis for rare disease. Our services include but are not limited to:

Whole Genome Sequencing Service

The entire genome of an organism is sequenced, including all genes, noncoding regions, gap regions, and mitochondrial DNA.

Whole Exome Sequencing Service

The exonic regions encoding proteins of organisms are sequenced, focusing only on genes directly related to protein synthesis.

Targeted Gene Sequencing Service

Only specific genes or gene regions of interest relevant or experimentally processed for rare diseases are targeted for sequencing.

Our services will help you achieve the goals as following:

  • Identify structural variants in rare disease research, including Indel, CNVs, translocations.
  • Detect of small variants in challenging regions of the genome.
  • Capture the full length and sequence of repeat expansions.
  • Phase rare disease variants across alleles.

Project Workflow

  • Sample Collection
    Sample Collection
  • DNA Library Construction
    DNA Library Construction
  • Sequencing
  • Bioinformation Analysis
    Bioinformation Analysis
  • Validation and Testing
    Validation & Testing

Our Advantages

State-of-art sequencing and analysis equipment

State-of-art sequencing and analysis equipment

Experienced bioinformatics analysts

Experienced bioinformatics analysts

Fast analytical flow and reliable results

Fast analytical flow and reliable results

Instant globalization services

Instant globalization services

With the participation of genetics experts and bioinformatics analysis engineers with rich project experience, our company provides end-to-end genomic analysis service to help you speed up big data analytics related to rare diseases. If you are interested in our genomic analysis service, please feel free to contact us for more information.


  • Liu Z, et al. Toward clinical implementation of next-generation sequencing-based genetic testing in rare diseases: where are we? [J]. Trends in Genetics, 2019, 35(11): 852-867.

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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