Introduction to Genotyping
Genotyping enables researchers to explore genetic variants such as single nucleotide polymorphisms (SNPs) and large structural changes in DNA. High-throughput genomic technologies such as next-generation sequencing (NGS) and microarrays enable a deeper understanding of disease etiology on a molecular level.
With multiple genomic targets potentially contributing to disease, analysis requires flexibility and accuracy. SNP genotyping and copy number variation (CNV) 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
Whole-Genome Genotyping
Interrogate SNPs and other variants across the entire genome to obtain the most comprehensive view of genomic variation.
Learn MoreTargeted Genotyping
Focus time and resources on genotyping SNPs and other variants in a specific genomic region of interest, often with higher coverage.
Learn MoreCustom Genotyping
Perform studies on genome regions or organisms of interest for which standard products are not available.
Learn MoreCopy Number Variation Analysis
Detect DNA copy number changes, as well as aberrant chromosome amplifications and deletions, relative to a reference genome.
Learn MoreGenotyping Customer Stories
Polygenic Risk Scores Could Become Useful Tools in the Physician's Toolbox
Researchers perform large genome-wide association studies to identify disease-associated DNA risk loci and develop PRSs for clinical validation.
Read Interview
Farm Aid: How Genomics Changed Herd Management
Genotyping enables a farmer to enhance the quantity and quality of milk produced by his herd for cheese production.
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 InterviewInvestigating the Genetics of COVID-19 Susceptibility
Illumina is providing sequencing for a UK-wide study led by Genomics England, designed to compare the genomes of severely and mildly ill COVID-19 patients. This research may help uncover genetic factors associated with susceptibility.
Read Article
Related Solutions
Genotyping Plants and Animals
Enhance the value of crops and herds with screening and discovery tools that aid in breeding decisions. Learn more about plant and animal genotyping.
Cancer Germline Mutation Studies
Analyze germline mutations that predispose individuals to cancer using microarrays and NGS. Learn more about cancer germline mutation analysis.
Large-Scale Genotyping
High-throughput microarrays help labs identify common genetic variations among large cohorts for population-scale genotyping studies. Explore high-throughput genotyping solutions.
SNP Genotyping Data Analysis
GenomeStudio Software enables efficient SNP genotype calling, data normalization, loss of heterozygosity (LOH) calculation, CNV analysis, and more. Learn more about GenomeStudio Software.
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 Genomics
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.
A New Breed of Genomics Service
Imagene Labs uses Illumina microarray and LIMS solutions to provide genomic wellness services.
Microarray Technology
Find out how our high-density bead-based microarray technology delivers trusted quality and reproducible data for cost-effective genotyping.
Untangling Alzheimer's Secrets
Amanda Myers, PhD uses a combination of genomics, transcriptomics, and proteomics to explain the complexity of Alzheimer’s disease.
Microarray Solutions
Access a comprehensive range of array-based techniques and solutions for genotyping and epigenetics studies.
Gene Panel and Array Finder
Identify sequencing panels or microarrays that target your genes of interest.