Genotyping
Introduction to Genotyping
Genotyping allows scientists to explore genetic variants such as single nucleotide variants, copy number variants, and large structural changes in DNA. High-throughput genomic technologies such as next-generation sequencing (NGS) and microarrays can provide a deeper understanding of disease etiology on a molecular level.
With multiple genomic targets potentially contributing to disease, analysis requires flexibility and accuracy. Genotyping data analysis tools can analyze results for millions of markers and probes and detect sample outliers, providing insight into the functional consequences of genetic variation.
Key Genotyping Techniques
Genome-Wide Genotyping
Interrogate variants across the entire genome to obtain a comprehensive view of genomic variation.
Targeted Genotyping
Focus time and resources on genotyping variants in a specific genomic region of interest, often with higher coverage.
High-Throughput Genotyping
Large-scale genotyping with microarrays can identify variants associated with disease risk in large cohorts or populations.
SNP and SNV Genotyping
Compare techniques for detecting single nucleotide polymorphisms and variants to determine which approach is best for your needs.
Copy Number Variation Analysis
Detect DNA copy number changes, as well as aberrant chromosome amplifications and deletions, relative to a reference genome.
Custom Genotyping
Screen large sample sets for novel genetic variants or species, or target regions of the genome relevant to your specific research interests.
Species-Specific Genotyping Approaches
Human Genotyping (Array-Based)
Microarrays are ideal for assessing known markers in the human genome, enabling researchers to find SNPs or larger structural changes among millions of markers.
Plant and Animal Genotyping
Microarrays enable cost-effective animal and plant screening applications for large sample numbers. The resulting genotype data can inform selection and breeding decisions.
Genotyping by Sequencing
Genotyping by sequencing (GBS), or next-generation genotyping, is a cost-effective genetic screening method for discovering novel plant and animal SNPs and other variants.
Scientists Discuss Genotyping Projects
Developing Polygenic Risk Scores for Complex Diseases
Researchers perform large genome-wide association studies to identify disease-associated DNA risk loci and develop PRSs for clinical validation.
Read Interview
Establishing and Scaling an Efficient Genotyping Facility
Learn how Prenetics scaled up their genotyping laboratory to increase capacity and serve their growing customer base.
Read Interview
Direct-to-Consumer Genetic Testing Expands in Asia
A joint-venture DTC company focuses on the large and growing South Korean market as an entry point into Southeast Asia.
Read InterviewPrecision Genomics
Learn how genomics is advancing precision medicine by helping to pinpoint the underlying causes of diseases, optimize treatments, and create better outcomes.
Related Solutions
Genome-Wide Association Studies
Scan entire genomes of large numbers of individuals quickly in order to uncover disease-associated genetic variants. Learn more about GWAS.
Cancer Germline Mutation Studies
Analyze germline mutations that predispose individuals to cancer using microarrays and NGS. Learn more about cancer germline mutation analysis.
Complex Disease Genomics
Find out more about gene target identification, polygenic risk scores, and other disease research topics. Learn more about complex disease research.
Pharmacogenomics
Understand how variations in the human genome affect our response to medications. These insights may help maximize treatment benefits while reducing health care costs. Learn more about pharmacogenomics.
Genetic and Rare Diseases
We're developing solutions to facilitate early detection and intervention for affected families. Learn more about genetic and rare diseases.
Cardiovascular Disease Research
Cardiac gene panels using NGS can help to detect variants associated with cardiomyopathy and other heart diseases. Learn more about cardiovascular genomics.
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Additional Resources
Array and Library Prep Kit Selector
Easily identify the best array or sequencing library prep kit based on project type, starting material, and method.
Genomics Consortia
Explore consortium-built products that support high-throughput, multiplex studies of diverse populations and complex diseases.
NGS Technology
With unprecedented throughput, scalability, and speed, NGS enables study of biological systems at a level never before possible.
Gene Panel and Array Finder
Identify sequencing panels or microarrays that target your genes of interest.
Microarray Technology
Find out how our high-density bead-based microarray technology delivers trusted quality and reproducible data for cost-effective genotyping.
Microarray Solutions
Access a comprehensive range of array-based techniques and solutions for genotyping and epigenetics studies.