Overview
The Infinium Global Diversity Array (GDA) with Enhanced PGx-8 v1.0 BeadChip supports pharmacogenomics (PGx) research in diverse populations as well as polygenic risk score development, ancestry determination, and genetic disease research.
The largest genome-wide backbone of any array developed for PGx research
> 44K genome-wide PGx markers spanning > 2K PGx targets
Automated, scalable 3-day workflow with minimal hands-on time
Robust CNV detection and targeted amplification to allow PGx pseudogene disambiguation
PGx star allele and variant coverage across 1700+ targets for over 50 genes with optional DRAGEN Array secondary analysis
Comprehensive coverage
The GDA with Enhanced PGx offers coverage of > 6K annotated variants from public PGx databases like PharmGKB 1 , CPIC 2 , PharmVar 3 , and ClinVar 4 , including hard-to-discern genes like CYP2D6, CYP2B6, and TPMT.
Exceptional exonic content across populations
The GDA with Enhanced PGx features improved tagging in exonic regions and enriched coverage to map loci from genome-wide association studies (GWAS) with previously identified disease or trait associations.
QC markers for sample identification
The BeadChip includes quality control (QC) markers for large-scale studies, enabling sample identification, tracking, ancestry determination, stratification, and more.
Applications
The Infinium Global Diversity Array with Enhanced PGx is designed to support pharmacogenomics (PGx) research, polygenic risk score development, ancestry determination, and genetic disease research.
Example workflow
Infinium Global Diversity Array with Enhanced PGx
DesignStudio Custom Assay Designer
iScan System
Illumina Connected Analytics
DRAGEN Array
GenomeStudio Software
Related applications and methods
Pharmacogenomics
Pharmacogenomics, the study of how variations in the human genome affect our response to medications, may help reduce adverse drug reactions and medical costs.
Polygenic risk scores
Polygenic risk scores represent the total number of genetic variants an individual has that increase their risk of developing a particular disease.
Genomics in drug discovery and development
Reduce risks and improve development outcomes through improved insights
Infinium Global Diversity Array with Enhanced PGx content
Inner pie shows the proportion of the array selected for genome-wide coverage, clinical research, and quality control (QC). Outer ring shows the weighted reference global allele frequency for unique variants present in 1kGP. 5 Variants not in 1kGP are labeled. Counts represent unique variants.
Broad spectrum of pharmacogenomics markers
Clinical research content based on CPIC guidelines and PharmGKB database. 1,2 Includes PGx public database variants, variants annotated in PharmGKB, PharmVar, 3 CPIC, genome-wide PGx coverage, extended ADME genes, CPIC level A genes, including targeted imputation tag SNPs, and CPIC level A CNV tags.
Disease research content covering diverse populations
The Infinium Global Diversity Array with Enhanced PGx includes extensive coverage of numerous phenotypes and disease classifications based on (A) ClinVar categories and (B) NHGRIGWAS categories.
QC markers
QC variants on the Infinium Global Diversity Array with Enhanced PGx enable various capabilities for sample tracking such as sex determination, continental ancestry, human identification, and more.
Trusted Infinium chemistry delivers the same high-quality, reproducible data that Illumina genotyping arrays have delivered for > 10 years. The high signal-to-noise ratio of the individual genotyping calls from the Infinium assay provides access to genome-wide copy CNV calling.
Data performance: Value a
Call rate: 99.7%
Reproducibility: 99.99%
Spacing
Spacing (kb): Mean
1.53: 0.61
a. Values are derived from genotyping 2228 HapMap reference samples
b. Excudes y chromosome markers for female samples
c. Based on results from Gentrain sample set
Resources
Introducing the Infinium Global Diversity Array with Enhanced PGx
Learn how the Infinium Global Diversity Array with Enhanced PGx-8 v1.0 BeadChip is uniquely suited for pharmacogenomics research applications.
Infinium Global Diversity Array with Enhanced PGx-8 v1.0 Kit (48 Samples)
20044822
Includes six, 8-sample BeadChips and reagents for amplifying, fragmenting, hybridizing, labeling, and detecting 48 DNA samples. Requires 200 ng DNA for input. Each kit is processed as a single batch. View less
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Infinium Global Diversity Array with Enhanced PGx-8 v1.0 Kit (384 Samples)
20044823
Includes 48, 8-sample BeadChips and reagents for amplifying, fragmenting, hybridizing, labeling, and detecting 384 DNA samples. Requires 200 ng DNA for input. Each kit is processed as a single batch. View less
Infinium Global Diversity Array with Enhanced PGx-8+ v1.0 Kit (48 Samples)
20048347
Includes six, 8-sample BeadChips and reagents for amplifying, fragmenting, hybridizing, labeling, and detecting 48 DNA samples. Customize content with an additional ≤ 175K markers using DesignStudio or select from a list of add-on content available as boosters. Requires 200 ng DNA for input. Each kit is processed as a single batch. View less
Infinium Global Diversity Array with Enhanced PGx-8+ v1.0 Kit (384 Samples)
20048348
Includes 48, 8-sample BeadChips and reagents for amplifying, fragmenting, hybridizing, labeling, and detecting 384 DNA samples. Customize content with an additional ≤ 175K markers using DesignStudio or select from a list of add-on content available as boosters. Requires 200 ng DNA for input. Each kit is processed as a single batch. View less
DRAGEN Array Cloud - star allele annotation
20109886
Per sample analysis quota for star allele calling using DRAGEN Array Cloud. One per sample analysis quota is needed per sample analyzed for star allele calling using the analysis type, DRAGEN Array – PGx – star allele calling. DRAGEN Array Cloud provides analysis kickoff using BaseSpace Sequence Hub. The BaseSpace Sequence Hub access is facilitated by an Illumina Connected Analytics (Basic, Professional, or Enterprise) annual subscription. iCredits are used to store data on the cloud platform. View less
DRAGEN Array Local - star allele annotation
20109885
Per sample analysis quota for star allele calling using DRAGEN Array Local. One per sample analysis quota is needed per sample analyzed for star allele calling using the star-allele call subcommand. DRAGEN Array Local is a command-line software with no FPGA hardware or specialized server required and is downloadable from the Illumina Support Site. Internet is required for per sample quota check. View less
ICA Basic Annual Subscription
20044874
Illumina Connected Analytics (ICA) Basic Annual Subscription. This product includes 1 year of access to ICA Basic, including sequencing instrument connectivity, data management capabilities, and access to pre-packaged analysis tools. View less
Illumina Analytics - 1 iCredit
20042038
iCredits are used for data storage and analysis on either BaseSpace Sequence Hub or Illumina Connected Analytics. View less
Infinium® Assay: An Introduction – Customer Site
20015273
Three-day, hands-on instruction at customer site to familiarize users with the essential steps in the Infinium protocol. Course provides hands-on training in sample and BeadChip preparation, sample scanning using the iScan System, and primary data evaluation and analysis using array analysis software. View less
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Who is the Global Diversity Array with Enhanced PGx designed for?
The GDA with Enhanced PGx is ideal for clinical and translational researchers interested in PGx research, polygenic risk score development, genetic disease research, ancestry determination, and more. PGx research aims to enable physicians to tailor treatment through medication substitution or dosage augmentation and reduce potential risks, resulting in lower medical costs, shorter hospital stays, and improved medication safety and efficacy.
How are the Global Diversity Array and the Global Diversity Array with Enhanced PGx different?
The GDA with Enhanced PGx offers genome-wide coverage of > 44K ADME markers, including critical PGx genes such as CYP2D6, compared with ~31K genome-wide ADME markers on the GDA. It also includes a targeted gene amplification step for accurate genotyping of critical genes such as CYP2D6, CYP2B6, and TPMT. > 6K variants from globally recognized PGx databases including PharmGKB, CPIC, ClinVar, and PharmVar are also included.
How does the workflow differ for the GDA with Enhanced PGx and the standard GDA?
The GDA with Enhanced PGx workflow contains an additional step for targeted gene amplification (TGA) to disambiguate pseudogenes. The protocol requires a thermal cycler on day 1. On day 2, the TGA reaction product is added to the whole genome amplification (WGA) reaction product and the remaining workflow steps proceed like the standard GDA, beginning with fragmentation. The overall workflow time is similar for both assays.
Frequently purchased
Other products to consider
1. PharmGKB, The Pharmacogenomics Knowledgebase. pharmgkb.org . Accessed January 23, 2020.
2. Clinical Pharmacogenetics Implementation Consortium (CPIC). cpicpgx.org . Accessed January 23, 2020.
3. PharmVar, Pharmacogene Variation Consortium. pharmvar.org . Accessed January 23, 2020.
4. ClinVar Database. ncbi.nlm.nih.gov/clinvar . Accessed January 23, 2020.
5. European Bioinformatics Institute. 1000 genomes.org. Accessed January 23, 2021.
