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Rare Autosomal Dominant Disease Gene Identification

Autosomal dominant disease means one of the two copies (monoallelic) of a given gene on the autosome has a defect that causes the disease. Our company has extensive expertise in rare disease target identification, particularly in rare autosomal dominant disease gene identification, our flexible solutions can provide efficient methods to expand your discovery and identification of rare disease targets, and accelerate your development of rare disease therapy.

Introduction to Rare Autosomal Dominant Diseases

Individuals affected by rare autosomal dominant disease are usually heterozygous, with a normal allele and a defective allele. In some cases, rare autosomal dominant disorders are caused by de novo mutation (DNM) in the germ cells of one of the parents or early embryonic development, these diseases are considered to be sporadic disorders. Many diseases affecting various biological pathways in different organs follow autosomal dominant inheritance.

1-2-1-2 Rare Autosomal Dominant Disease Gene Identification-1Fig.1 Identification strategies for disease-causing genes or mutations associated with rare and undiagnosed complicated diseases. (Wang, Gang, et al., 2022)

Next Generation Sequencing (NGS) strategy is a rapid, effective, and reliable tool to detect known and novel mutations in cases of rare autosomal dominant and sporadic diseases. With the implementation of more advanced and sophisticated molecular techniques such as NGS, it is possible to increase understanding of the pathogenesis of rare autosomal dominant diseases.

Challenges in the Study of Rare Autosomal Dominant Diseases

Defective copies of a given gene can lead to autosomal dominant disorders through three main mechanisms, namely haploinsufficiency, dominant negative, or gain-of-function effects. Although partial explanations for the underlying causes of diseases have been obtained, the identification of causative genes and a deeper mechanistic understanding of biological processes are still necessary. Rare dominant and sporadic diseases also pose additional challenges, including incomplete penetrance, variable expressivity, hypomorphic alleles, and mosaicism.

Our Services

To help customers identify the causative genes and pathogenesis of rare diseases to advance the research and development of rare disease therapies, our company focuses on further improvements in next-generation sequencing (NGS) technology and can provide whole-genome sequencing (WGS) and whole-exome sequencing (WES) services for disease gene identification, thereby supporting target research on rare autosomal dominant diseases.

Gene Panels Development

Use NGS-based methods to provide you with customized gene panel services related to autosomal dominant rare diseases, as an important tool and method for genetic screening and disease analysis of rare autosomal dominant diseases.

Mutation Pathogenicity Assessment

Helping customers identify known, novel, and rare variants in exome targets, rare variants causing protein truncations, splice variants, and non-synonymous single nucleotide variants (SNVs) and assess the pathogenicity of these variants.

Mosaic Variation Identification

Providing mosaic variation identification services to detect and quantify deleterious mosaic mutations in rare genetic disorders such as autosomal dominant polycystic kidney disease (ADPKD).

Why Choose Us?

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  • Cutting-edge technology and equipment
  • High-quality products and services
  • Stringent quality control and testing
  • Providing standardized upstream platform solutions
  • Competitive pricing and fast turnaround time
  • One-stop platform with an experienced technical team

Project Workflow

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Our company aims to apply innovative technologies to the analysis of genetic variation to help our customers better understand the molecular mechanisms of rare autosomal dominant and sporadic diseases. Our mission is to provide innovative and scalable solutions and professional technical support to meet our customers' needs. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.


  • Wang, Gang, et al. "Rare and undiagnosed diseases: from disease-causing gene identification to mechanism elucidation." Fundamental Research (2022).

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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