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Infinium Global Screening Array with Enhanced PGx-48 v4.0 Kit

This microarray is a cost-effective, high-throughput tool for pharmacogenomics (PGx) research and large-scale genotyping studies.

Infinium Global Screening Array with Enhanced PGx-48 v4.0 Kit

This microarray is a cost-effective, high-throughput tool for pharmacogenomics (PGx) research and large-scale genotyping studies.
Scientist holding beadchip

Infinium Global Screening Array with Enhanced PGx-48 v4.0 Kit

This microarray is a cost-effective, high-throughput tool for pharmacogenomics (PGx) research and large-scale genotyping studies.

11,520 samples/week max throughput per iScan System. Throughput and scan times will vary based on system configuration

Sample throughput

48

Number of samples

656,275 markers and 10,000 custom marker capacity

Number of markers

See full details in the specifications table

Overview

This microarray is built for high-throughput laboratories performing pharmacogenomics (PGx) research and large-scale genotyping studies. The 48-sample size offers excellent scalability and a 2.5 day workflow while featuring:

  • 656,275 variants selected from globally recognized databases

     

  • Over 1.2M genome-wide markers, including critical PGx variants, replacing multiple arrays and PCR assays

     

  • 100% coverage of priority level A and B CPIC genes

  • Targeted gene amplification for analysis of hard-to-assess genes like CYP2D6, CYP2B6, and TPMT

  • 10,000 marker custom add-on capacity that enables flexibility

  • Compatible with powerful DRAGEN Array secondary analysis

Optimized global content

Genome-wide content includes variants with established disease associations, relevant pharmacogenomics markers, and curated exonic content derived from ClinVar, NHGRI, PharmGKB, and ExAC databases.

Scalable throughput

Infinium EX format is compatible with the advanced Infinium Amplification System and the Infinium Automated Pipetting System with ILASS to enable an automated, scalable workflow with a 2.5-day turnaround time.

Intuitive analysis

DRAGEN Array secondary analysis enables accurate, comprehensive, and efficient PGx CNV (copy number variants) calling and star allele annotation.

Specifications

Assay type Infinium EX
Automation capability Automated array loader, Liquid handling robot(s)
Input quantity 200 ng
Instruments iScan System
Method High-throughput genotyping array, Genome-wide genotyping array
Nucleic acid type DNA
Number of markers 656,275 markers and 10,000 custom marker capacity
Number of samples 48 samples per array
Sample throughput 11,520 samples/week max throughput per iScan System. Throughput and scan times will vary based on system configuration
Specialized sample types Blood
Species category Human
Technology Microarray
Variant class Single nucleotide polymorphisms (SNPs), Structural variants, Single nucleotide variants (SNVs), Insertions-deletions (indels), Copy number variants (CNVs)

Required Products

The main difference between each Infinium Global Screening Array with Enhanced PGx-48 v4.0 Kit is the number of samples supported with the provided reagents. Select from kits with a “+” designation when custom content is needed for the array. 

Customers will need the iScan System, Infinium Automated Pipetting System with ILASS, and an Infinium EX/XT Starter Kit 220V or Infinium EX/XT Starter Kit 110V. 

The Infinium Amplification System is optional but can be added to enable automation of the pre-amplification steps in the workflow. 

/ Results

Applications

High-throughput genotyping array for pharmacogenomic and precision medicine research

Example workflow

1
Prep

Infinium Global Screening Array with Enhanced PGx

DesignStudio is a web-based assay design tool to help researchers design and order custom genotyping microarray probes or custom sequencing assays.

2
Process

iScan System

The iScan microarray scanner supports high-throughput Beadchip processing, scanning hundreds to thousands of samples quickly and accurately.

Infinium Automated Pipetting System with ILASS

Automation options with robot control software for Infinium assays streamline sample preparation workflows and reduce errors.

Infinium Amplification System

Automation options with robot control software for Infinium assays streamline sample preparation workflows and reduce errors.

3
Analyze

DRAGEN Array 

DRAGEN Array provides accurate, comprehensive and efficient secondary analysis for Infinium microarrays.

Related applications and methods

Understand how variations in the human genome affect our response to medications 

Pharmacogenomics, the study of how variations in the human genome affect our response to medications, may help reduce adverse drug reactions and medical costs.

Documentation

Product literature
Support documentation

Compare

Infinium Global Screening Array with Enhanced PGx-48 v4.0 Kit Infinium Global Diversity Array with Enhanced PGx Infinium Global Screening Array-48 Kit
Assay type Infinium EX Infinium LCG
Automation capability Automated array loader, Liquid handling robot(s) Automated array loader, Liquid handling robot(s) Automated array loader, Liquid handling robot(s)
Input quantity 200 ng 200 ng 100 ng
Instruments iScan System iScan System iScan System
Method High-throughput genotyping array, Genome-wide genotyping array Genome-wide genotyping array Genome-wide genotyping array
Nucleic acid type DNA DNA DNA
Number of markers 656,275 markers and 10,000 custom marker capacity 1,933,117 markers in total; custom add-on capacity of 125K Approximately 650K markers that span the human genome
Number of samples 48 samples per array 8 samples per array 48 samples/array
Sample throughput 11,520 samples/week max throughput per iScan System. Throughput and scan times will vary based on system configuration 1728 samples per week ~11,520 samples/week max throughput per iScan System. Throughput and scan times will vary based on system configuration.
Specialized sample types Blood Blood Blood
Species category Human Human Human
Technology Microarray Microarray Microarray
Variant class Single nucleotide polymorphisms (SNPs), Structural variants, Single nucleotide variants (SNVs), Insertions-deletions (indels), Copy number variants (CNVs) Single nucleotide polymorphisms (SNPs), Chromosomal abnormalities, Insertions-deletions (indels), Copy number variants (CNVs) Single nucleotide polymorphisms (SNPs), Structural variants, Insertions-deletions (indels), Copy number variants (CNVs)

Selection tools:

Library Prep and Array Kit Selector

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Figures

Figure 1

Annotated research database content summary

Distribution of markers for genome-wide coverage, clinical research, enhanced PGx, and quality control (QC). 

Figure 2

Broad spectrum of pharmacogenomics markers

Clinical research content developed from an extensive list of pharmacogenomics markers selected based on CPIC guidelines and the PharmGKB database.1,2 Content includes PGx public database variants, variants annotated in PharmGKB, CPIC, genome-wide PGx coverage, extended ADME genes,3 CPIC level A genes, including targeted imputation tag SNPs, and CPIC level A CNV tags. 

Figure 3

Disease research content covering diverse populations

The Infinium Global Screening Array with Enhanced PGx v4.0 includes extensive coverage of phenotypes and disease classifications based on NHGRI GWAS database categories

Figure 4

Pathological

Distribution of variant pathology classifications according to ClinVar and ACMG annotations.

Figure 5

Clinical research database content

Expertly selected clinical research content from key databases supports a broad range of applications.

Figure 6

QC content by category

The Infinium Global Screening Array with Enhanced PGx-48 v4.0 contains ~8.3K QC markers enabling various sample tracking functions such as sex determination, continental ancestry, human linkage, and more.

  1. Counts contain some markers that are represented in multiple QC categories.
Figure 7

Infinium EX Workflow

The Infinium EX 48-sample workflow provides a rapid workflow with minimal hands-on time.

References

  1. Whirl-Carrillo M, Huddart R, Gong L, et al. An Evidence-Based Framework for Evaluating Pharmacogenomics Knowledge for Personalized Medicine. Clin Pharmacol Ther. 2021;110(3):563572. doi:10.1002/cpt.2350
  2. Clinical Pharmacogenetics Implementation Consortium (CPIC). cpicpgx.org. Accessed September 13, 2024.
  3. Gaedigk A, Casey ST, Whirl-Carrillo M, Miller NA, Klein TE. Pharmacogene Variation Consortium: A Global Resource and Repository for Pharmacogene Variation. Clin Pharmacol Ther. 2021;110(3):542-545. doi:10.1002/cpt.2321.

Infinium Global Screening Array with Enhanced PGx-48 v4.0 Kit (48 samples)

20065219

Includes one, 48-sample BeadChip 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.

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Infinium Global Screening Array with Enhanced PGx-48 v4.0 Kit (96 samples)

20068346

Includes two, 48-sample BeadChips and reagents for amplifying, fragmenting, hybridizing, labeling, and detecting 96 DNA samples. Requires 200 ng DNA for input. Each kit is processed as a single batch.

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Infinium Global Screening Array with Enhanced PGx-48 v4.0 Kit (1152 samples)

20068347

Includes 24, 48-sample BeadChips and reagents for amplifying, fragmenting, hybridizing, labeling, and detecting 1152 DNA samples. Requires 200 ng DNA for input. Each kit is processed as a single batch.

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Infinium Global Screening Array with Enhanced PGx-48+ v4.0 Kit (48 Samples)

20068363

The Infinium Global Screening Array-48 v4.0 (GSA) is a higher throughput beadchip that combines multi-ethnic genome-wide content, curated clinical research variants, and quality control (QC) markers for precision medicine research.

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Infinium Global Screening Array with Enhanced PGx-48+ v4.0 Kit (96 Samples)

20068364

The Infinium Global Screening Array-48 v4.0 (GSA) is a higher throughput beadchip that combines multi-ethnic genome-wide content, curated clinical research variants, and quality control (QC) markers for precision medicine research.

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Infinium Global Screening Array with Enhanced PGx-48+ v4.0 Kit (1152 Samples)

20068365

The Infinium Global Screening Array-48 v4.0 (GSA) is a higher throughput beadchip that combines multi-ethnic genome-wide content, curated clinical research variants, and quality control (QC) markers for precision medicine research.

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Software options (2)

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.

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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.

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Data analysis and storage (8)

Illumina Analytics - 1 iCredit

20042038

iCredits are used for data storage and analysis on either BaseSpace Sequence Hub or Illumina Connected Analytics.

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Illumina Analytics  Starter Pack - 1,000 iCredits

20042039

iCredits are used for data storage and analysis on either BaseSpace Sequence Hub or Illumina Connected Analytics.

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Illumina Analytics  - 5,000 iCredits

20042040

iCredits are used for data storage and analysis on either BaseSpace Sequence Hub or Illumina Connected Analytics.

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Illumina Analytics  - 50,000 iCredits

20042041

iCredits are used for data storage and analysis on either BaseSpace Sequence Hub or Illumina Connected Analytics.

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Illumina Analytics - 100,000 iCredits

20042042

iCredits are used for data storage and analysis on either BaseSpace Sequence Hub or Illumina Connected Analytics.

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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.

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ICA Professional Annual Subscription

20044876

Illumina Connected Analytics (ICA) Professional Annual Subscription. This product includes 1 year of access to ICA, including sequencing instrument connectivity, data management capabilities, access to pre- packaged tools, and the ability to create customized workflows composed of tools, pipelines, data warehouses, and notebooks.

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ICA Enterprise Annual Subscription

20038994

Illumina Connected Analytics (ICA) Enterprise Annual Subscription. This product includes 1 year of access to ICA Enterprise, including sequencing instrument connectivity, data management capabilities, custom and pre-packaged analysis tools, and the Base module for data warehousing and mining. ICA Enterprise also includes optional HIPAA BAA (US-only), single sign-on (SSO), and a service level agreement (SLA).

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FAQs

  • The whole-genome amplification step is 3 hrs for Infinium EX compared with 24 hrs for legacy workflows
  • There is an additional step for targeted gene amplification (TGA) to disambiguate pseudogenes
  • Kits include updated EH&S-friendly reagents that are formamide-free
  • ILASS provides an improved UI (user interface) and support experience

Infinium Automated Pipetting System with ILASS (IAPS with ILASS):
Required for post-amplification steps

Infinium Amplification System (IAS):
Optional for pre-PCR steps (whole genome amplification and targeted gene amplification)
These automation instruments offer:

  • High throughput capabilities: the IAS can process 4 plates in 25 minutes and the IAPS with ILASS can process 1 plate in 25 minutes
  • Efficiency: Use 8-tip and 96-tip heads (disposable tips are provided by the customer) 
  • Automation software: ILASS, which comes with out-of-the-box integration with hosted Clarity LIMS software

The Infinium Global Screening Array with Enhanced PGx-48 v4.0 Beadchip is a high-throughput genotyping microarray for pharmacogenomic studies. The additional content on this array compared with the Infinium Global Screening Array-48 v4.0 is the Enhanced PGx content, which includes 100% coverage of priority level A and B CPIC genes from recognized PGx databases such as PharmGKB, PharmVar, CPIC, and ClinVar. The genomic backbone coverage is based on the Global Screening Array v3.0; however, the 48-sample design ensures increased scalability and cost-effectiveness. This array is an ideal tool for high-volume, population screening initiatives.

/ Results

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