Genomic solutions for complex disease. Discover more.

Power your discovery with integrative genomics

Applications Methods

Whole-Genome

Array

Whole-Genome

Sequencing

Whole-Exome

Sequencing

RNA Sequencing

Methylation Array

Methyl Capture

Sequencing

Targeted Genotyping

Array

Targeted Resequencing

Common Variant Discovery in Defined and Admixed PopulationsWhole-genome sequencing on a defined set of samples, combined with existing genotyping data or with Infinium®

Multi-Ethnic Arrays for new studies of admixed samples, improves imputation accuracy and variant discovery.• •

Rare Variant DiscoveryWhole-genome sequencing is a comprehensive, high-value, and unbiased approach for detecting variants in coding

and noncoding regions of the human genome. •

Rare Variant Discovery in Coding RegionsWhole-exome sequencing enables faster, more cost-effective rare variant discovery than whole-genome sequencing for targets within protein-coding regions. •

eQTL DiscoveryExpression quantitative trait loci (eQTL) discovery via genotyping arrays coupled with RNA sequencing enables evaluation of

expression changes associated with variants.• •

Correlation of Methylation and ExpressionMethylation profiling combined with expression profiling of specific tissues informs mechanistic directional expression. • • •

Epigenetic Variant DiscoveryGenome-wide methylation profiling, with methylation arrays and/or methyl capture sequencing, efficiently evaluates epigenetic modifications. • •

Epigenetic Variant ValidationMethyl capture sequencing provides an orthogonal method to confirm or validate epigenetic variants associated with complex disease. •

Gene Variant ValidationCost-effective validation of a subset of candidate genes and loci. • •

Novel Variant Discovery in Known GenesValidation and screening of potentially causative variants in known or candidate genes. •

Applications Methods

Whole-Genome

Array

Whole-Genome

Sequencing

Whole-Exome

Sequencing

RNA Sequencing

Methylation Array

Methyl Capture

Sequencing

Targeted Genotyping

Array

Targeted Resequencing

Common Variant Discovery in Defined and Admixed PopulationsWhole-genome sequencing on a defined set of samples, combined with existing genotyping data or with Infinium®

Multi-Ethnic Arrays for new studies of admixed samples, improves imputation accuracy and variant discovery.• •

Rare Variant DiscoveryWhole-genome sequencing is a comprehensive, high-value, and unbiased approach for detecting variants in coding

and noncoding regions of the human genome. •

Rare Variant Discovery in Coding RegionsWhole-exome sequencing enables faster, more cost-effective rare variant discovery than whole-genome sequencing for targets within protein-coding regions. •

eQTL DiscoveryExpression quantitative trait loci (eQTL) discovery via genotyping arrays coupled with RNA sequencing enables evaluation of

expression changes associated with variants.• •

Correlation of Methylation and ExpressionMethylation profiling combined with expression profiling of specific tissues informs mechanistic directional expression. • • •

Epigenetic Variant DiscoveryGenome-wide methylation profiling, with methylation arrays and/or methyl capture sequencing, efficiently evaluates epigenetic modifications. • •

Epigenetic Variant ValidationMethyl capture sequencing provides an orthogonal method to confirm or validate epigenetic variants associated with complex disease. •

Gene Variant ValidationCost-effective validation of a subset of candidate genes and loci. • •

Novel Variant Discovery in Known GenesValidation and screening of potentially causative variants in known or candidate genes. •

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

Discovery Validation

Explore a variety of methods and streamlined workflows Whole-genome sequencing

Prepare library

TruSeq® DNA PCR-Free Kit

Sequence

HiSeq® Series

Analyze data

Isaac™ Whole Genome Sequencing, VariantStudio

Sequence Analyze data

Whole-exome sequencingPrepare library

TruSeq® Exome Kit HiSeq® Series, NextSeq® System

Isaac™ Enrichment v1.0, VariantStudio

Sequence Analyze data

RNA sequencingPrepare library

TruSeq® Stranded Total RNA Kit

HiSeq® Series, NextSeq® System

TopHat, CuffLinks Assembly & DE

Sequence Analyze dataMethyl capture sequencing

Prepare library

TruSeq® Methyl Capture EPIC Kit

NextSeq® System MethylSeq V2 App & MethylKit V2 App

Targeted resequencingSequence Analyze dataPrepare library

TruSeq® Custom Amplicon Kit

NextSeq® System, MiSeq® System,

MiniSeq™ System

TruSeq Amplicon, VariantStudio

Whole-genome arrayPrepare BeadChip

Infinium Multil-Ethnic Kit series,InfiniumOmni Kit series,

Infinium Global Screening Array

Scan BeadChip

iScan®, HiScan®

Analyze data

Genome studio: genotyping

Targeted genotyping arrayPrepare BeadChip

Infinium ImmunoArray BeadChip v2,

Infinium Neuro Consortium Array

Scan BeadChip

iScan®, HiScan®

Analyze data

Genome studio: genotyping

Methylation arrayPrepare BeadChip

Infinium ImmunoArray BeadChip v2

Scan BeadChip

iScan®, HiScan®

Analyze data

Genome studio: methylation

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

Genomic data analysis: streamlined and simplified

BaseSpace Informatics Suite: Comprehensive, cloud-based informatics solutions• Rely on a software platform that provides common capabilities across the suite, simplifying and

expediting your NGS workflows.

• Tap into key functionality such as laboratory information management, data storage, analysis, and interpretation.

• Obtain high-quality genomic data quickly and apply it immediately.

BaseSpaceClarity LIMS

Automate wet labwork�ows and track samples

Acquire

Analyze, call variants, securely store and share

BaseSpaceSequence Hub

Analyze and Share

BaseSpaceVariant Interpreter

Assess variant interpretation with

BaseSpace Knowledge Network

(Beta)

Interpret

BaseSpace Informatics Platform

BaseSpaceCorrelation Engine

Correlate genes,phenotypes, compounds,

tissues and more

Aggregate

BaseSpaceCohort Analyzer

Analyze cohorts, generate insights, spur biomarker discovery

Aggregate

BaseSpace®

Informatics Suite

BaseSpace Sequence Hub: Store and share sequencing data • Accelerate analysis with push-button tools.

• Access the Hub via an intuitive web-based interface or Linux-based command-line tool.

• Select software applications (apps) according to each of your project needs and launch them with a click.

• Match your experimental method to the best app in the growing menu from whole-genome analysis to targeted sequencing.

GenomeStudio Software: Convert array data into meaningful results• Visualize and analyze data generated on Illumina array platforms.

• Performance-optimized tools and a user-friendly graphical interface.

• Discrete application modules enable the comparison of data from different applications, providing a comprehensive view of the genome, gene expression, and regulation.

BaseSpace Correlation Engine: Data-driven insights into genes, variants, and signatures.• Obtain data-driven answers by instantly mining over 20,000 studies for genes,

variants, and signatures.

• Identify mechanisms of diseases, drug targets, and prognostic or predictive biomarkers.

• Access a continually growing library of curated genomic data.

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

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.

© 2016 Illumina, Inc. All rights reserved. Illumina, BaseSpace, GenomeStudio, HiSeq, HiScan, Infinium, Isaac, iScan, NextSeq, TruSeq, the pumpkin orange color, and the streaming bases design are trademarks of Illumina, Inc. and/or its affiliate(s) in the US and/or other countries. All other names, logos, and other trademarks are the property of their respective owners. Pub No. 1070-2016-010 Current as of 12 October 2016

Access a breadth of applications. Gain a depth of insights. To enhance their understanding of complex disease, researchers are applying

integrative genomic approaches to gain a more complete picture of biology. Our

powerful methods and streamlined workflows equip researchers to discover more.

• Identify and validate the relationship of genetic profiles to disease phenotypes.

• Investigate gene expression and regulation profiles throughout entire pathways.

• Experience a smooth transition, streamlined workflows, and 1-stop support.

A global leader in DNA sequencing and microarray-based solutions, Illumina is dedicated to improving

human health by unlocking the power of the genome. Serving customers in the research, clinical,

and applied markets, Illumina technology is responsible for generating more than 90% of the world’s

sequencing data.* Through collaborative innovation, Illumina is fueling groundbreaking advancements in

oncology, reproductive health, genetic disease, agriculture, microbiology, forensic science, and beyond.

By empowering large-scale analysis of genetic variation and function, Illumina is enabling studies that were

not imaginable just a few years ago, moving us closer to the realization of precision medicine.

*Data calculations on file. Illumina, Inc., 2015.

Learn how you can discover more with our comprehensive genomic solutions for complex disease. Contact your Illumina representative or visit www.illumina.com/complexdisease