Understanding our genetic variation

High-throughput arrays for identifying nucleotide and structural changes in the human genome

Human Genotyping

To date, human genotyping efforts have identified thousands of associations between genetic variants and diseases or traits, and created maps of the unique variation within populations. Microarrays are the ideal platform for assessing known markers in the human genome, enabling researchers to find single nucleotide polymorphisms (SNPs) or larger structural changes among millions of markers.

With Illumina human genotyping arrays, you can choose expertly designed content, use consortium-developed markers, or customize array content according to your research objectives. Our array solutions provide trusted performance and support high-throughput, multiplex processing for large-scale population studies, clinical research, and other human genotyping projects.

Illumina human genotyping arrays offer several advantages.

  • Trusted data quality with widely adopted Infinium technology
  • High resolution for detecting copy number variation (CNV), loss of heterozygosity (LOH), and insertions/deletions
  • Coverage of common and rare variants as well as diverse global populations
  • High-throughput, multiplex array processing
  • Low per-sample cost
  • Integration with Illumina sequencing systems for multi-omics analyses
Benefits of Human Genotyping

Choose from ready-to-use human genotyping arrays with expertly designed content, or design custom iSelect or semicustom arrays to suit specific research needs. Process and scan arrays with a rapid three-day workflow.*

*Infinium XT offers a two-day workflow option.

Click on the below to view products for each workflow step.

Infinium XT

Comprehensive microarray solution for production-scale human genotyping with flexible content.

Microarray Kit Selector

Find the best kit for your needs based on project type, starting material, and method or application.

All Microarray Kits

Ready-to-use microarray kits for human genotyping and epigenetic analysis.

DesignStudio Microarray Assay Designer

Web-based tool for designing custom arrays.

iScan System

Microarray scanner for high-throughput processing of thousands of samples per day.

Infinium Accessory Kits

Hardware, software, and accessories needed to process multiple array samples in parallel.

Infinium Automation Packages

Robotic liquid-handling capabilities, control software, and other options to automate the array workflow and reduce errors.

AutoLoader 2.x

This device automatically loads array carriers onto scanning systems.

Array Data Analysis Solutions

Software to help you visualize, analyze, and manage human genotyping data.

Illumina LIMS

Laboratory information management system for high-throughput array processing and sample tracking.

BaseSpace Clarity LIMS

Laboratory information management system for labs running sequencing and array experiments.

BaseSpace Correlation Engine

Web-based tools for early-stage research to identify disease mechanisms, drug targets, and prognostic or predictive biomarkers.

The Pharmacogenetics of Cardiovascular Disease Therapy

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

Read Interview
Scanning Population-Based Biobanks for Rare Variants

The HUNT Biobank and Lifandis AS genotyped more than 250,000 samples and searched for variants linked to myocardial infarction.

Read Interview
Hispanic Population Genotyping

Researchers team up with Illumina FastTrack Services to identify disease-associated markers prevalent in the Hispanic population.

Read Interview
Cancer Germline Mutations
Cancer Germline Mutation Analysis

Study cancer predisposition and risk with Illumina microarrays, sequencing systems, and data analysis software. Learn more about cancer germline mutation analysis.

Disease Variant Studies
Causal Variant Discovery

High-throughput DNA sequencing technologies allow researchers to rapidly screen large sample numbers to find causal variants associated with complex diseases. Learn more about causal variant discovery.

Whole-Genome Genotyping
Whole-Genome Genotyping

Whole-genome arrays leverage highly informative genome-wide tag SNPs found across diverse populations for large-scale studies.

Learn More
Targeted Genotyping
Targeted Genotyping

Perform genotype screening of large populations against targeted SNPs targeting specific traits or genes of interest.

Learn More
Infinium Array Family
Human Infinium Array Family

Infinium microarrays support a wide range of human genetic analysis studies.

Access PDF
Scouring the Epigenome For The Origins of Dementia
Dementia-Related Epigenetic Changes

Dr. Jon Mill at King’s College London uses methylation arrays to study epigenetic changes that contribute to neurodegenerative disorders.

Access PDF
Genotyping Consortia
Genotyping Consortia

Illumina BeadChip genotyping panels are the foundation of > 25 consortia products.

Learn More
FastTrack Microarray Services
FastTrack Microarray Services

Illumina experts provide methylation array and genotyping services.

Learn More
Illumina Methods Guide
Methods Guide

All the information you need, from BeadChips to library prep to sequencer selection and analysis. Select the best tools for your lab.

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