High-Throughput Genotyping

The Power of Large-Scale Genotyping Studies

To realize the potential of precision medicine, genetic information must be amassed on a large scale. High-throughput genotyping studies are crucial for generating this volume of data and identifying disease associations. Currently, microarrays are the platform of choice for genotyping, as they allow investigators to survey millions of markers across disease cohorts or populations.

High-throughput genotyping data hold immense value for pharmacogenomics, consumer genomics, population studies, and clinical practice. These studies can identify not only genetic risk factors for disease, but also the genotypes associated with drug response. Eventually, this information can lead to better health management and more successful treatment strategies.

Propelling Progress with Microarrays

Benefits of High-Throughput Genotyping

Microarrays are ideal for large-scale genotyping studies to identify disease associations or characterize populations. Illumina arrays offer several advantages.

  • Scalable workflow to support population studies or other large projects, with flexibility to increase throughput as demands grow
  • Trusted data quality and widespread global adoption
  • Low per-sample cost
  • Integration with Illumina sequencing systems for multi-omics analysis
  • Built-in lab management, tracking, and traceability tools to help production-scale and clinical labs ensure positive sample tracking
Pharmacogenomics and Cardiovascular Disease

Dr. Dubé and her team at the Montreal Health Institute used an array to identify responder genotypes in a cholesterol drug trial.

Read Interview

High-Throughput Genotyping Workflow

Featured Customer Stories

Bringing Meaning to Genetic Information
Bringing Meaning to Genetic Information

MyDNA partnered with Illumina, providing customers with access to its MyDNA software platform to make the most of the data produced and to enhance their reports.

Read Interview

Customizing Genetic Testing in Japan and Southeast Asia
Customizing Genetic Testing in Japan and Southeast Asia

Genesis Healthcare aims to help people make proactive lifestyle adjustments by offering direct-to-consumer kits based on the Infinium HumanCoreExome Array.

Read Interview

Development of an Ethnic Chinese Genome Database
Development of an Ethnic Chinese Genome Database

High-throughput Infinium arrays help WeGene provide personal genetic testing services and support human genome research studies.

Read Interview

Rapid Microarray Workflow for High-Throughput Genotyping

The Infinium XT microarray workflow is ideal for production-scale genotyping, supporting biobanks and precision medicine initiatives. Each step of the Infinium workflow is optimized in the Infinium XT workflow, reducing the turnaround time from three days to two days.

Rapid Microarray Workflow for High-Throughput Genotyping
Infinium Global Diversity Array with Enhanced PGx Content

Introducing the most comprehensive genotyping microarray on the market for pharmacogenomic (PGx) research with >1.9M markers, access to high-impact PGx genes, and optional reporting software with star allele calling and metabolizer status reporting.

Order Now
nature genetics

Prioritizing Functional Genetic Variants

Genome-wide association studies have identified thousands of variants with putative roles in different diseases and complex traits. However, going from statistical associations to true insight into mechanisms of disease or biology remains an incredible challenge for the field.

Powerful combinations of high-throughput experimental assays, single-cell approaches and computational analyses are accelerating the ability to link variants to function, and by extension, link genotype to phenotype.

View Webinar

Related Solutions

Complex Disease Genomics
Complex Disease Genomics

Complex diseases result from a combination of genetic and environmental factors. Array and sequencing technologies can help reveal the underpinnings of these diseases.

Learn more about complex disease genomics

Microarray Techniques
Microarray Techniques

From discovery applications to routine screening, microarrays are a powerful tool for analyzing genetic variation.

Learn more about microarrays

Population Genomics
Population Genomics

National population genomics programs seek to integrate large, diverse data sets, combining clinical information with genomic data at scale in a learning health system.

Learn more about population genomics

Interested in receiving newsletters, case studies, and information on genomic analysis techniques? Enter your email address.

Additional Resources

Genomics Consortia
Genomics Consortia

Illumina helps connect researchers who share similar goals so they can pool resources for large-scale genotyping projects.

FastTrack Microarray Services
FastTrack Microarray Services

Illumina experts provide high-throughput genotyping and methylation array services.

Saving Time and Resources with LIMS
Saving Time and Resources with LIMS

BaseSpace Clarity LIMS integrates easily with many common lab instruments for simplified operations and information management.

Genotyping Lab Scales to Meet Growing Demand
Genotyping Lab Scales to Meet Growing Demand

Expanding capacity and increasing efficiencies enabled a Shanghai genotyping laboratory to maximize its profit margins.

Scaling Up to Genotype Thousands of Samples
Scaling Up to Genotype Thousands of Samples

Working with the Illumina ArrayLab Consulting Service, GPBio optimized lab operations to increase efficiency and throughput.

Establishing an Efficient Genotyping Facility
Establishing an Efficient Genotyping Facility

In collaboration with Illumina, Prenetics expanded its high-throughput genotyping lab to serve its growing customer base.

High-Throughput Genomics
High-Throughput Genomics

We offer the high-throughput genomic tools needed for large-scale, global analyses of genetic markers related to disease risk.