Product Information Sheet: Genotyping

Infinium DrugDev Consortium Array®

A new array for discovery and translational genomics.

Highlights• Wide Applicability
Enables drug target discovery and validation, drug
repurposing, and drug specificity studies• Comprehensive Coverage
Provides systematic/dense coverage of ADME genes and the
druggable genome• Informative Content
Includes indel, exome, CNV, and high-value GWAS content

Introduction
Effective drug development depends on proper target validation andan understanding of drug safety and efficacy in a wide population.
Current development processes rely on clinical trials to obtain thisinformation. Unfortunately, this process often results in high rates oflate-stage failures. In addition, it may not account for the variationin genes encoding proteins involved in drug metabolism thatoccurs naturally within a diverse population. The Infinium DrugDev
Consortium Array combines available genomic data with advanced
computational tools to enable researchers to test targets earlier in thedevelopment process.

Figure 1: Infinium DrugDev Consortium Array—Providing trusted HumanCore
BeadChip content plus > 180,000 markers with known associations to thedruggable genome.

••

Comprehensive Coverage for Drug Discovery

Drugged and druggable mitochondrial genes and nuclearencoded mitochondrial proteins
Genes encoding proteins believed to be druggable by smallmolecule and biotherapeutic drugs

Most currently available whole-genome arrays have limited coverageof drugged, druggable, and absorption, distribution, metabolism,and excretion (ADME) genes. The Infinium DrugDev Consortium
Array extends this coverage, enabling translational genomics at asystematic level (Tables 1–4, 6). Developed in collaboration withleaders in translational genomics and computational biology, theDrugDev array provides researchers with the ability to perform genetic
studies using the principle of Mendelian randomization to reproduce
the key elements of a randomized trial. This testing ensures that target
validation can take place earlier in the development process.

Wide Range of Applications

The DrugDev array combines the trusted genome-wide tag single
nucleotide polymorphism (SNP) content of the Infinium HumanCore-24
BeadChip (240,000 highly informative genome-wide tag SNPs andover 20,000 high-value markers) with a novel, 180,000 custom marker
set designed to support studies of drug target validation and treatment
response. The custom marker set, or Human Drug Target Validation
and Response module, provides coverage of:Developed through a collaboration between Illumina scientists
and leaders in translational genomics and computational chemical
biology, the Infinium DrugDev Consortium Array features an averageof 48.9 SNPs per druggable gene. This 24-sample BeadChip can beused in patient or population samples for discovery-based genomic
studies of disease, and for the analysis of preclinical biomarkers, inacademic or industrial research.

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Learn More•

Genes involved in ADME
Genes encoding proteins that are known efficacy targets of smallmolecule and biotherapeutic drugs, regardless of the clinical phaseof drug development (early, late, or approved) as described by theEMBL-EBI ChEMBL database1
Genes encoding proteins closely related to targets of approved
small-molecule and biotherapeutic drugs or binding druglike compounds

For Research Use Only. Not for use in diagnostic procedures.

The DrugDev array is suitable for patient or population collections
in discovery-based genomic studies of disease end-points and/or preclinical disease biomarkers. The systematic, comprehensive
coverage of the druggable genome and ADME genes extends
the capability of the DrugDev array to various drug discovery anddevelopment studies (Table 5).

Summary

To learn more about the Infinium DrugDev Consortium Array or place
an order, contact consortiamanager@illumina.com, your genotyping
specialist, or a local sales representative:
North America: 800.809.4566
Europe, Middle East, Africa: +44.1799.534000
Other regions: www.illumina.com/company/contact-us.htmlProduct Information Sheet: Genotyping
Table 1: Preliminary Product Information for the Infinium DrugDev
Consortium Array

FeatureDescription

Table 3: Preliminary Coverage for Infinium DrugDev Consortium Array

FeatureMarkers

Markers per Gene(Average)

Total Number of Markers

485,000

ADME Genes

22,33276

Capacity for Custom Markers

100,000

Drug Targets

96,45980

Druggable Targets

48,70067

Likely Druggable Targets

64,58025All230,036

49

Number of Samples per BeadChip

24

DNA Input Requirement

200 ngAssay

Infinium HTSiScan® or HiScan® System

Instrument Support

5760 samples/week

Sample ThroughputaiScan
2.6 min

HiScan2.0 min

1kGP MAF> 5%1kGP MAF> 1%ADME Genes

0.93

0.87

Drug Targets

0.94

0.88

Scan Time per Sample

Variation Captured (r2 ≥ 0.8)

Druggable Targets

0.94

0.88

Likely Druggable Targets

0.81

0.71

All

0.87

0.79

a. Estimate assumes 2 iScan systems, 1 AutoLoader 2.x, 2 Tecan robots, and a 5-day
work week.

Number of Markers

Whole-Genome Tag SNPs

250,421

Indel/Exome/CNV Detection> 20,000

Drug Target Validation and Response Module

199,150

Exonic Markers

Number ofGenesFeature
ADME Genes289Drug Targets (targets of approved drugs or those inclinical development)

1137

Druggable Targets (targets of drug-like compounds orclosely related to drug targets)

680

Likely Druggable Targets (extracellular proteins or
members of drug-target families)2370

All (all genes from above categories)

4476

Table 5: Applications of Infinium DrugDev Consortium Array

Table 2: Preliminary Marker Information for Infinium DrugDev
Consortium Array

Marker Categories

Table 4: Drug Target Validation and Response Module Content forInfinium DrugDev Consortium Array

Application

ExamplesDrug Target Discovery

Identifying druggable proteins playing a causal
role in a disease of interest

Drug Target Validation andPrioritization

Informing if and when to advance an existing
drug or drug-like compound through a drug
development pipeline

Drug Indication Studies

Identifying new indications for an existing drugby determining the role of a drug target in adifferent disease from the current drug indication(repurposing)

Drug Specificity Studies

Separating on- vs. off-target effects for both
first-in-class and fast-follower drugs

Stratified Medicine Studies

Determining patient subgroups, based onrisk and response, for randomized trials or
nonrandomized research studies

78,125
X8107

Sex Chromosomes

Y1943

X Chromosome Markers

8107

Mitochondrial Markers

267

Fingerprint SNPs

93

Ancestry Informative Markers

800

Table 6: Comparative Features of Whole-Genome Arrays

Infinium Genotyping
Array

Number of SNPs
Within 5 kb of
RefSeq Genes

Number of SNPs
Within 5 kb ofDruggable Genes

Average Numberof SNPs per
Druggable Gene% SNPs (MAF≥ 1%) in Druggable
Genes Covered atr2 ≥ 0.8% SNPs (MAF≥ 5%) in Druggable
Genes Covered atr2 ≥ 0.8

DrugDev Consortium Array

335,410230,036

48.9

0.793

0.870

OmniExpress-24

373,682

115,664

23.1

0.600

0.747

OncoChip

260,740

79,292160.492

0.613

HumanExome-12

237,121

69,203

14.6

0.099

0.115

Reference1.

www.ebi.ac.uk/chembl Accessed 14 June 2015.

Illumina • 1.800.809.4566 toll-free (US) • +1.858.202.4566 tel • techsupport@illumina.com • www.illumina.com
For Research Use Only. Not for use in diagnostic procedures.
© 2015 Illumina, Inc. All rights reserved. Illumina, HiScan, Infinium, iScan, and the pumpkin orange color are trademarks of Illumina, Inc. and/or its affiliate(s) in the U.S. and/or other countries. Pub. No. 1070-2015-002 Current as of 12 September 2015