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Rare Disease Mosaic Variation Identification

Mosaicism is the presence of two or more genomes in an individual that originated from a single zygote. Our company has extensive experience in rare disease target identification, especially in rare disease mosaic variation identification, and can provide you with professional services and customized research and development solutions, thereby revealing potential therapeutic targets and providing direction and higher efficiency for your rare disease drug research.

Overview of Mosaic Variation

Mosaicism is a common and unavoidable phenomenon in apparently normal individuals and contributes to the diversity of the human genome. Depending on the developmental stage at which the mutation occurs, mosaicism can be classified into one of three categories: i) somatic mosaicism, ii) germline mosaicism, or iii) gonosomal mosaicism, which is a combination of somatic and germline mosaicism. The type of mosaic variation and the particular stage of embryonic development at which the event occurs determine the outcome and severity of any given disease.

1-2-1-4 Rare Disease Mosaic Variation Identification-1Fig.1 Mosaic variant selection flowchart. (Wright, C. F., et al., 2019)

Advantages of NGS in Mosaic Variation Identification

The increasingly sensitive techniques available for variant discovery allow for more accurate identification of disease-causing variants. Recent studies have shown that next-generation sequencing (NGS) with deep sequence coverage has the potential to improve the sensitivity of detecting mosaic events and elucidating their role in rare diseases, including mosaic single nucleotide variants (SNVs), mosaic aneuploidy, and mosaicism in cancer. NGS allows the identification of low-level mosaicism that cannot be detected by traditional Sanger sequencing, which provides an in-depth understanding of the mosaic mutation spectrum and highlights the importance of genetic mosaicism as a rare disease mechanism.

Our Services

With a complete technology platform and diversified talent resources, our company provides customers with detection and quantification services of deleterious mosaic mutations in a variety of rare genetic diseases. We help customers gain insight into the role of mosaic variants in the genome and improve the ability to rare disease target identification. Our mosaic variation identification services include but not limited to:

  • Mosaic Aneuploidy Identification Service
  • Germline Mosaicism Identification Service
  • Cryptic Mosaicism Identification Service
  • Obligate Mosaicism Identification Service
  • Somatic Single Nucleotide Variants Identification Service
  • Methods for Mosaic Variation Identification

SNP Arrays

Genotype and copy number data are provided via high-density single nucleotide polymorphism (SNP) arrays. In the absence of copy number variation, mosaic events can be detected by deviations of B allele frequency (BAF) from 50% for heterozygous calls.

Karyotype Analysis

Relying on the mature karyotype analysis platform and advanced technology, we provide karyotype analysis to realize microscopic visualization and ordering of the complement of chromosomes to detect the presence of mosaicism.

NGS Analysis

Providing detection of mosaic single nucleotide variants and mosaic structural variants by NGS analysis, and providing customized DNA probe libraries to capture target genes and then perform in-depth NGS analysis.

Project Workflow

1-2-1-4 Rare Disease Mosaic Variation Identification-2

As a service and product provider in the field of rare disease research, our company has established flexible and efficient strategies to greatly facilitate the accurate detection of mosaic variations in rare diseases, particularly low-level mosaicism, which is essential for expanding the understanding of rare disease pathogenesis and disease management. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.


  • Wright, C. F., et al. "Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data." Nature Communications 10.1 (2019): 2985.

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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