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Transcriptomic Analysis Service

Transcriptomic analysis focuses on the total RNA transcripts in a cell or tissues, allowing the researchers to analyze expression patterns of coding genes, discover alternative splicing forms, and identify non-coding RNAs. Our company provides high-quality sequencing and in-depth analysis services to help you quickly grasp gene expression information related to rare diseases.

Transcriptomics in Rare Disease

Transcriptomic analysis has broadened the view of gene expression in cells from patients with rare diseases on a genome-wide scale, rather than been restricted to a few genes. Abnormalities in some key genes acting as precursor factors may induce changes in a wide range of gene expression profiles, and the regulatory effects of non-coding RNAs on target genes are also being revealed. Therefore, transcriptomic analysis can provide unique gene expression patterns in rare patients. Combination of gene expression patterns and phenotypes will provide valuable clues for the development of more accurate diagnostic tools and targeted treatment.

Transcriptomic Analysis Service-1Fig.1 The diagnostic pipeline of transcriptome analysis for rare Mendelian disease (Gonorazky HD, et al., 2019)

One-Dimensional Transcriptome

The routine transcriptome sequencing provides comprehensive RNA information in samples from patients with rare diseases. The differentially expressed genes obtained by comparison with normal controls are correlated with phenotypes to dig out the pathogenic genes and pathways. For example, the application of this technique has unraveled the transcriptional variants of immune cells in different cystic fibrosis (CF) patients.

Two-Dimensional Transcriptome

In general, biological samples encompass a number of cell types, however, bulk RNA-seq does not have the ability to distinguish the particular expression signatures of these cells, nor can it differentiate between healthy and diseased cells, resulting in cellular heterogeneity being hidden. The advent of single-cell RNA-seq has greatly enriched the understanding of rare diseases. As exemplified by the case that single-cell RNA-seq has helped researchers determine the response of each immune cell to an intervention in patients with systemic autoinflammatory diseases.

Three-Dimensional Transcriptome

In order to gain a more precise understanding of gene expression in different cells, it is necessary to dissect the transcriptional landscape from a higher dimension. The spatial transcriptome provides a platform to address this question. It is to be hoped that the spatial transcriptome detection of tissues from patients with rare diseases will be greatly helpful to understand the interactions between neighboring cells and find the specific location of abnormal cells with dysregulated transcripts.

Our Services

The application of transcriptomic analysis in different dimensions provides a comprehensive exploration platform for the research and diagnosis of rare diseases. Our company has a mature diagnostics development system that provides you with a high-level bioinformatics team to support the transcriptomic analysis for rare disease. Our services include but are not limited to:

Whole Transcriptome Sequencing Service

Whole Transcriptome Sequencing Service

The living tissues are collected for sequencing of all RNAs, including mRNA, miRNAs, lncRNA, etc.

Single-Cell RNA Sequencing Service

Single-Cell RNA Sequencing Service

The single cells with high viability isolated from the tissues are barcoded and sequenced based on microfluidic technology.

Animal study Services scheme

Spatial Transcriptomics Service

After immediate fixation, sections of the examined tissues are used to examine gene expression at various locations.

Our services will help you achieve the goals as follows:

  • Detection of SNVs, Indels and events leading to aberrant transcript regulation
  • Accurately catalog Mendelian phenotypes
  • Functional Interpretation of associations of VUSs in rare disease cases
  • Identification of causative genes of rare diseases

Project Workflow

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

Our Advantages

Tight project schedule saving your time

Tight project schedule saving your time

Well-developed process to ensure data quality

Well-developed process to ensure data quality

Innovative bioinformatics analysis

Innovative bioinformatics analysis

Meet all personalized analysis needs

Meet all personalized analysis needs

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


  • Gonorazky HD, et al. Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease [J]. Am J Hum Genet. 2019, 7; 104(3):466-483.

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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