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Artificial Intelligence Services for Rare Disease Research

Artificial Intelligence Services for Rare Disease Research

In recent years, as advances in technology have revealed new uses for artificial intelligence, it is increasingly being applied to the study of a wide range of diseases, including rare diseases. Our company is committed to providing customers with artificial intelligence services to help predict, study and identify rare diseases and develop therapeutics.

Artificial Intelligence in Rare Diseases

Although the study of rare diseases is challenging due to their specificity, the development of new technologies has greatly facilitated molecular understanding and the development of diagnostic methods for rare diseases, such as genomic analysis through next-generation sequencing (NGS) and many other 'omics technologies'. The application of these technologies has helped scientists to obtain large amounts of data that need to be selected, analyzed, and integrated. The analysis and interpretation of obtained data have brought great opportunities for advances in basic research and therapeutic development for rare diseases, but also present significant data management challenges.

Artificial intelligence algorithms show great potential in biomedical fields, such as the analysis and classification of sequence pathogenic variants, drug discovery, and preclinical studies for certain types of diseases. With the rapid development of artificial intelligence, basic research, diagnosis, and therapy development for rare diseases are also beginning to draw on the power of this technology. Using artificial intelligence to analyze possible genetic variants and quickly identify the root cause of a disease can help researchers to develop the right therapeutics while reducing the investment of time, money, and effort.

Fig. 1 The workflow of the phenotype-based rare disease auxiliary diagnosis system (RDAD).

Fig. 1 The workflow of the phenotype-based rare disease auxiliary diagnosis system (RDAD). (Jia J, et al., 2018)

Our Services

Researchers at our company focus on artificial intelligence to address challenges in the study of a wide range of rare genetic diseases, including systemic lupus erythematosus (SLE), cystic fibrosis, Huntington's disease, fragile X syndrome, and more. Our experts are dedicated to designing and developing artificial intelligence technologies to help our customers make progress in the study of rare diseases in the areas of pathology, diagnosis, prognosis, disease patterns, and therapeutics. The services we offer include, but are not limited to:

  • Mutation detection and/or prediction
    We use a variety of artificial intelligence algorithms to help our customers identify disease-associated genes and mutations and predict their impact.
    • Single nucleotide variants (SNVs)
      We help customers analyze synonymous variants and non-synonymous SNVs that alter protein sequences using the variant effect scoring tool (VEST), silent variant analyzer (SilVA), etc.
    • Slicing mutations
      We provide a prediction of the presence of splice donors and acceptors in pre-mRNA transcripts to assess the splice-altering impact of pathogenic cryptic splice variants in introns associated with specific rare diseases.
    • Multigenic mutations
      We have developed machine learning methods for identifying combinations of pathogenic variants in gene pairs to provide our clients with more informative and accurate predictions than those based solely on the pathogenicity score of monogenic variants.
    • Copy number variation analysis
    • Genotype-phenotype integration
      We provide variant pathogenicity prediction and annotation tools to identify and prioritize pathogenic variants.
  • Disease characterization
    We provide computerized methods to analyze the correlation between gene expression abnormalities with molecular mechanisms and phenotypes, helping our clients to study and predict disease mechanisms at different levels, from genes to proteins and cells.
  • Biomarker detection


We provide artificial intelligence services to our customers to achieve the following goals:

  • Developing fast and accurate diagnostics for rare diseases
  • Defining disease characteristics
  • Developing potential therapeutics
  • Predicting rare disease progression or response to therapeutics
  • Analyzing the association of a disease with other conditions

Our company provides customers with professional artificial intelligence services for rare disease research. Our expertise and extensive experience in deep learning and multi-omics analysis help to facilitate our customers' research in the area of understanding and treating rare diseases. If you need our services, please contact us for more information.


  • Jia, J.; et al. RDAD: a machine learning system to support phenotype-based rare disease diagnosis. Frontiers in genetics, 2018, 9: 587.

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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