Whole human genome sequencing services.Powered by TruSeq®.

Now is the time to take your research further. Faster.

As whole human genome sequencing becomes

more accessible, the ability to study the entire

genome accelerates opportunities for discovery.

Fueling a new generation of genomic studies.

Only Illumina offers access to the most accurate,

most complete whole human genome sequencing

data. Giving you the clearest picture of the genome.

Empowering your research like never before.

The only complete research solution. You’ve got the samples, but not the dedicated resources or time. You need an experienced

service partner to perform whole human genome sequencing to advance your studies.

Illumina offers the only end-to-end research solution, with guaranteed access to industry-leading

TruSeq technology through our sequencing platforms, network of partners, and our own

FastTrack Services. From discovery to validation, we provide support for every step of your project.

Once your whole human genome sequencing project is complete, we’ll help you with follow-on

studies. Whether it’s targeted exome sequencing, SNP discovery, or RNA-Seq, you’ll get the

in-depth genomic information you need to accelerate your research.

And since your data will be delivered in the format most compatible with popular analysis tools,

you can easily continue with any secondary studies of your own.

Our network of partners with one focus—to perform whole human genome sequencing projects on Illumina systems.

Our CLIA-approved and CAP-accredited in-house services, offering sequencing and genotyping.

Certified service labs producing validated Illumina data.

Whole human genomesequencing services.Without compromise. When you use the Illumina Genome Network, you get the highest data quality with the

fastest turnaround, to decrease your time-to-publish. All of your data is delivered in

industry-standard format to streamline collaborations and allow integrated follow-on

studies. And everything is completed at a competitive price, so you can sequence

more samples for less.

The Illumina Genome Network delivers the following key analysis results and metrics:

• Sequence data: Aligned and non-aligned reads in archival BAM format

• Variant information: SNP, indel, CNV, and SV (e.g., large insertion, large deletion)

variant calls in VCF format

• Sample report: Summary of sample and genome quality metrics in PDF format

• SNP concordance: All genotyping and WGS data files are provided (Figure 1)

Greater confidence in results.

Figure 1. Independent confirmation with HumanOmni 2.5 BeadChip shows SNP concordance > 99% for every sample.

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Illumina (40x)

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Callable Sites Present in Trio (bp) “N-Excluded”

Mendelian Conflicts on Genotypes

Conflicts Per Mb

2,575,974,378

35,843

13.91

2,576,709,660

5,837

2.27

Services Co. (60x) Illumina (40x)

Called SNPs in Any One of Trio

Mendelian Conflicts on Genotypes

False Positive Rate

4,294,576

35,843

0.83%

4,278,584

5,837

0.14%

Services Co. (60x) Illumina (40x)

Called SNPs

Called SNPs from Gold Standard Set (95,005)

False Negative Rate

3,466,755

87,474

7.93%

3,394,845

85,750

9.74%

Services Co. (60x) Illumina (40x)

Highest accuracy. More usable data.

Figure 2. Services Co. data contains over 35,000 consensus conflicts or errors within the genome.

Figure 3. More usable data: > 95% of the NCBI reference genome.*Sequencing performed on an Illumina HiSeq system.

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NA12891(43x)

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99.60

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99.75

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5.0

6.0

7.0

8.0

9.0

10.0

Callable Sites Present in Trio (bp) “N-Excluded”

Mendelian Conflicts on Genotypes

Conflicts Per Mb

2,575,974,378

35,843

13.91

2,576,709,660

5,837

2.27

Services Co. (60x) Illumina (40x)

Called SNPs in Any One of Trio

Mendelian Conflicts on Genotypes

False Positive Rate

4,294,576

35,843

0.83%

4,278,584

5,837

0.14%

Services Co. (60x) Illumina (40x)

Called SNPs

Called SNPs from Gold Standard Set (95,005)

False Negative Rate

3,466,755

87,474

7.93%

3,394,845

85,750

9.74%

Services Co. (60x) Illumina (40x)

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NA12892(49x)

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Services Co.(60x)

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Services Co. (60x)

Illumina (40x)

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4.0

5.0

6.0

7.0

8.0

9.0

10.0

Callable Sites Present in Trio (bp) “N-Excluded”

Mendelian Conflicts on Genotypes

Conflicts Per Mb

2,575,974,378

35,843

13.91

2,576,709,660

5,837

2.27

Services Co. (60x) Illumina (40x)

Called SNPs in Any One of Trio

Mendelian Conflicts on Genotypes

False Positive Rate

4,294,576

35,843

0.83%

4,278,584

5,837

0.14%

Services Co. (60x) Illumina (40x)

Called SNPs

Called SNPs from Gold Standard Set (95,005)

False Negative Rate

3,466,755

87,474

7.93%

3,394,845

85,750

9.74%

Services Co. (60x) Illumina (40x)

Proven TruSeq technology.Most accurate genome at any coverage.Illumina platforms make up the largest installed base of next-generation sequencing

systems worldwide—referenced in over 3,700 peer-reviewed publications, and

counting. They’re the most trusted and widely adopted for a reason: our proven

TruSeq technology, delivering the highest data accuracy in the industry for

variant calling (Figure 2).

Whole-genome sequencing involves more than obtaining data with high quality

scores or large coverage depth. It is more important to generate usable data

that produces the most callable bases across the entire genome, including in

traditionally difficult-to-sequence regions such as high GC (Figure 3).

Guaranteed access to the highest quality data. It’s easy to secure the most accurate, research-ready data that meets your needs,

budget, and timelines. Whether you own an Illumina system or use our sequencing

services, your research will always be powered by TruSeq.

Whole human genome sequencing service.

Illumina sequencing and genotyping services.

Certified service labs producing validated Illumina data.

HiSeq® systems—used for the largest and most complex sequencing studies.

Accessing the TruSeq genome.

Perform your next whole human genome

sequencing study with Illumina.

Learn more at www.illumina.com/WGS

www.illumina.com

Learn more at www.illumina.com/services

FOR RESEARCH USE ONLY© 2011-2013 Illumina, Inc. All rights reserved.Illumina, illuminaDx, BaseSpace, BeadArray, BeadXpress, cBot, CSPro, DASL, DesignStudio, Eco, GAIIx, Genetic Energy, Genome Analyzer, GenomeStudio, GoldenGate, HiScan, HiSeq, Infinium, iSelect, MiSeq, Nextera, Sentrix, SeqMonitor, Solexa, TruSeq, TruSight, VeraCode, the pumpkin orange color, and the Genetic Energy streaming bases design are trademarks or registered trademarks of Illumina, Inc. All other brands and names contained herein are the property of their respective owners. Pub. No. 070-2011-020 Current as of 28 May 2013