Genotyping Analysis


With many years of data analysis experience, CD Genomics provides you with various types of genotyping analysis services, including analysis of data generated by different classification techniques, such as whole-genome sequencing, whole-exome sequencing, whole-genome SNP chips, and mass spectrometry. We aim to help researchers effectively identify coding variants in a wide range of applications including population genetics, genetic disease and cancer research.


Genotyping is the process of examining the DNA sequence of an individual through the use of biological tests. It is also a process of comparing the target sequence with the sequence of another individual or a reference sequence to determine differences in the genetic makeup (genotype) of an individual. Researchers use genotyping to study genetic variations, such as single nucleotide polymorphisms (SNPs) and larger DNA structural changes. High-throughput genomic technologies such as next-generation sequencing (NGS) and microarrays allow researchers to gain a deeper understanding of the causes of diseases at the molecular level. Since there may be many genomic targets that can cause disease, analysis requires flexibility and accuracy. Using bioinformatics methods for genotyping analysis, such as SNP genotyping and copy number variation (CNV) analysis, can analyze the results of millions of markers and probes, and detect sample outliers, and predicting the functional consequences of gene mutations. At present, common genotyping methods include whole-genome sequencing, whole-exome sequencing, whole-genome SNP chips, and mass spectrometry, etc.

Application Areas of Genotyping

Genotyping Analysis Large-scale genotyping:

A high-throughput chip helps laboratories carry out group-scale genotyping research and detect common genetic variations in large-scale groups.

Tumor research
Tumor research:

Use microarrays and next-generation sequencing to analyze germ cell mutations related to cancer susceptibility.

Susceptibility gene detection
Susceptibility gene detection:

Genotyping genetic diseases or rare diseases, and mining susceptibility gene  information.

Personalized treatment
Personalized treatment:

Genotyping the diseased individuals and formulating personalized medication or treatment plans.

Explore CD Genomics Genotyping Analysis Solutions

CD Genomics provides customers with different types of genotyping analysis services based on your experiment data and data analysis requirements. In addition to the following analysis content, we will also provide customized data analysis services according to customer needs.

  • Whole Exome Genotyping Analysis
  • Analysis of exome sequencing data, such as typing analysis, can effectively identify coding variants in a wide range of applications including population genetics, genetic disease and cancer research.
  • GWAS Analysis
  • Genome-wide association analysis (GWAS) is an important method widely used to find genes associated with complex genetic diseases, and it is an analysis strategy for discovering genetic variation that affects complex traits through association analysis.
  • TWAS Analysis
  • Transcriptome-wide association studies (TWAS) is a valuable tool for studying the underlying gene regulatory mechanisms associated with variant traits. And TWAS has been successfully applied to a variety of diseases.
  • Whole Genome SNP Genotyping
  • Single nucleotide polymorphism (SNP) is an important material in genetics research. Genome-wide SNP genotyping can provide an overview of the entire genome, enabling genome-wide discovery and association studies.
  • CNV Analysis
  • Copy number variation (CNV) is caused by the rearrangement of the genome, generally refers to the increase or decrease in the copy number of large fragments of the genome with a length of 1 kb or more. CNV is an important genetic basis for individual differences.
  • SV Analysis
  • Structural variants (SVs) are genomic rearrangements affecting more than 50 bp. SV analysis is often used in the research of various diseases
  • InDel Analysis
  • InDel refers to the insertion or deletion sequence of small fragments in the genome, and its length is between 1-50 bp. InDel in the coding region will cause frameshift mutations, leading to changes in gene function.
  • Whole Genome Multilocus Sequence Typing
  • Multilocus sequence typing (MLST) is a bacterial typing method based on nucleic acid sequence determination. Genome-wide MLST is used to study bacterial epidemiology, population biology, pathogenicity and evolution.

Our Service Process

  • Communicate analysis needs

  • Upload data and develop analysis plan

  • Perform genotyping analysis

  • Generate high-quality results and charts

  • Report interpretation

Biomedical-Bioinformatics, a division of CD Genomics, provides a one-stop genotyping analysis service according to customer’s requirements. In addition to the above analysis content, we also provide other data analysis (such as SNP Fine Mapping) related to genotyping. If you have any other genotyping analysis needs, let us know and we will try our best to meet your needs. If you have any questions about the data analysis content, turnaround time and price, please feel free to contact us. We have a professional technical support team to provide you with the best services, and we look forward to working with you!

* For research use only. Not for use in clinical diagnosis or treatment of humans or animals.

Online Inquiry

Please submit a detailed description of your project. Our industry-leading scientists will review the information provided as soon as possible. You can also send emails directly to for inquiries.