Identifying variants across the entire genome

Array and sequencing technologies for genome-wide genotyping

Whole-Genome Genotyping

Whole-genome genotyping provides an overview of the entire genome, enabling genome-wide discoveries and associations. Using high-throughput next-generation sequencing (NGS) and microarray technologies, researchers can obtain a deeper understanding of the genome, providing insight into the functional consequences of genetic variation.

Microarray-based genome-wide association studies (GWAS) have been the most common approach for identifying disease associations across the whole genome. While whole-genome microarrays can interrogate over 4 million markers per sample, NGS-based whole-genome sequencing provides a comprehensive base-by-base method for interrogating the 3.2 billion bases of the human genome. Each technology offers unique advantages in price, data analysis, and throughput depending on particular study goals.

  • Provides the most comprehensive view of the genome
  • Detects single nucleotide polymorphisms (SNPs) and other variations across the genome
  • Can identify potential causative disease variants for further targeted studies
  • Expands range of discovery as content limitations are minimized
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Whole-genome genotyping microarrays have been used to successfully identify regions of the human genome that contribute to disease susceptibility and phenotypes. Illumina human whole-genome arrays offer informative content for a variety of human genotyping applications, from GWAS to copy number variation analysis and more.

Human Whole Genome Arrays
Array and Library Prep Kit Selector

Find and compare human whole-genome genotyping arrays with this easy-to-use tool.

Find Whole-Genome Arrays Find the Right Kit
All Illumina Arrays

View a full list of arrays, including kits designed for human genome-wide genotyping studies.

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Custom Genotyping

Design a genotyping array that focuses on your specific targets of interest.

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Illumina offers a comprehensive suite of genome-wide genotyping array products for non-human organisms. Find ready-to-use solutions for crops, livestock, and model organisms, or genotype any species with our custom array options.

Non-Human Whole-Genome Arrays
Array and Library Prep Kit Selector

Find and compare non-human whole-genome genotyping arrays with this easy-to-use tool.

Find Non-Human Arrays Find the Right Kit
All Non-Human Genotyping Kits

Access a wide variety of kits, including arrays, for genotyping non-human species such as crops, livestock, and model organisms.

See All Agrigenomics Kits
Custom Genotyping

Design custom arrays for any species or population, including those not supported by standard products.

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While arrays are effective for assaying known variants, they are limited in detecting novel variants. NGS is an unbiased approach to variant detection that evaluates all loci and alleles regardless of prior expectations. Whole-genome and whole-exome sequencing are common approaches for finding causal variants for rare or complex disease studies.

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Understanding Human Genome Variation

Hear Dr. Tuuli Lappalainen discuss integrating genome and transcriptome sequencing data to understand functional variation in human genomes.

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Novel variants discovered using NGS can be used to generate a completely custom array, or added as additional content to an existing whole-genome genotyping array for large sample screening studies. Design custom panels targeting specific traits and/or genes of interest or for species and populations not available as standard panels.

Explore Custom Genotyping
Adding Novel Variants to Arrays
Biobank Sample Genotyping
Biobank Sample Genotyping

Leverage biobank samples for translational, regenerative medicine, pharmacogenomics, clinical trial, epidemiology, and population studies. Learn more about biobank analysis solutions.

Causal Variant Discovery
Causal Variant Discovery

Screen large sample numbers quickly to find causal variants associated with complex diseases. Learn more about causal variant discovery.

Plant and Animal Genotyping
Plant and Animal Genotyping

Enhance the value of crops and herds with screening and discovery tools that aid in breeding decisions. Learn more about plant and animal genotyping.

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Genotyping Studies in Hispanic Populations
Genotyping Studies in Hispanic Populations

A collaborative genome-wide genotyping effort identifies disease-associated SNP markers prevalent in the Hispanic population.

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Microarray Data Analysis
Microarray Data Analysis

Tools designed to facilitate analysis of microarray data and ensure optimal time-to-answer.

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Sequencing Data Analysis
Sequencing Data Analysis

Easily analyze, store, manage and track genomic data with push-button bioinformatics tools.

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Genomic Services
Genomic Services

Access a diverse portfolio of array and NGS services that support a broad range of genetic analysis applications.

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Pharmacogenomics and Cardiovascular Disease
Pharmacogenomics and Cardiovascular Disease

Find out how researchers used an Illumina array to identify responder genotypes in a failed cholesterol drug trial.

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Genomics Consortia
Genomics Consortia

Illumina helps researchers who share similar goals join efforts to pool resources and create genomics tools.

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iScan Array Scanner
iScan Array Scanner

This cutting-edge array scanner offers industry-leading data quality and the flexibility to study any genetic variation.

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