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REVEAL GREATER COVERAGE DEPTH IN
WHOLE EXOME SEQUENCING
Achieve greater coverage depth from less sequencing
through the enhanced coverage of the new SeqCap EZ
MedExome Target Enrichment Kit for whole exome
sequencing. Rely on a design developed to enrich the
entire exome (Figure 1), but particularly optimized
for analyzing regions of medical relevance (Figure 2)
in research studies.
ï Focus on genomic regions that really matter
For disease-associated genes, 98% of bases are
covered at ˇ20X depth.
ï Call variants with conˇdence
Detect SNPs with 98% sensitivity and >99%
speciˇcity for SNP allele classiˇcation.
ï Gain greater efˇciency at minimal cost
Reduce sequencing cost through uniform
coverage (Figures 1 and 3) and fully supported
multiplexing protocols.
0
10
20
30
40
50
60
70
80
90
100
0 10 20 30 40 50 60 70 80 90 100 110 120 130 140 150
Percentofbases
Depth of coverage
Roche MedExome Supplier Aís Clinical Research Exome
Fold 80 Base Penalty
Fold additional sequencing needed to
bring 80% of the targeted bases up to
the original mean coverage depth
MedExome 1.95
Competitor A 2.21
0.0
10.0
20.0
30.0
40.0
50.0
60.0
<90% 90-97% 97-100% 100%
PercentoftotalGeneTestsgenescovered
Percent of each GeneTests geneís coding bases covered at ˇ20X
Roche MedExome Supplier A's Clinical Research Exome
Figure 1. Rocheís SeqCap EZ MedExome kit demonstrated
sustained coverage at 100% and more uniform coverage than
Supplier Aís Clinical Research Exome. Fold 80 base penalty
calculation shows more uniform capture for the SeqCap EZ MedExome
Kit. This graph is of one representative sample from one 6-plex capture
per product. For Supplier Aís product, the targets are unpadded.
SeqCap EZ MedExome kit target reˇects empirical target across all
metrics. All reads were subsampled to 60 million for assessment.*
Figure 2. With SeqCap EZ MedExome, 53% of medically relevant
genes are covered at 100% (ˇ20X coverage) vs. 6% by Supplier Aís
Clinical Research Exome. Percentage of bases covered at ˇ20X for each
consolidated target was determined using GATK (DepthOfCoverage),
summarized by gene. Supplier A kitís data was generated by a third-
party sequencing service provider, following Supplier Aís protocol. All
reads were subsampled to 60 million for assessment, then subjected to
the same bioinformatics pipeline for analysis.*
For patent license limitations for individual products please refer to:
www.technical-support.roche.com
NIMBLEGEN and SEQCAP are trademarks of Roche.
All other product names and trademarks are the property of their respective owners.
© 2016 Roche PP-US-05710-0816
Roche Diagnostics Corporation
9115 Hague Road
Indianapolis, Indiana 46256
For life science research only.
Not for use in diagnostic procedures.
Reveal more about the exome
Learn more about how the SeqCap EZ
MedExome Target Enrichment Kit can
improve your whole exome sequencing. Visit
sequencing.roche.com/medexome.html
or call 800-262-4911.
* Roche data on ˇle.
Supplier Aís Clinical Research ExomeRoche SeqCap EZ MedExome
Figure 3. SeqCap EZ MedExome shows reduced GC bias in
sequencing coverage with uniform coverage over a broad range
of GC content. One-hundred nanograms of extracted NA12898 DNA
was subjected to performance evaluation by both kits. Performance was
determined post-enrichment following SeqCap EZ Userís Guide v5.1.
Supplier Aís kit data was generated by a 3rd party service provider
following vendorís protocol. All reads were subsampled to 60 million for
assessment. Sequencing reads were subjected to the same bioinformatics
pipeline for analysis. GC composition of all consolidated target regions
(empirical target for MedExome, unpadded target for Supplier A) was
determined and plotted against mean depth of coverage calculated by
GATK DepthOfCoverage for all consolidated target regions.*
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26 AUGUST 2016 • VOL 353 ISSUE 6302 937 SCIENCE sciencemag.org/custom-publishing
LIFE SCIENCE TECHNOLOGIESNEW PRODUCTS
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Electronically submit your new product description or product literature information! Go to www.sciencemag.org/about/new-products-section for more information.
Newly offered instrumentation, apparatus, and laboratory materials of interest to researchers in all disciplines in academic, industrial, and governmental organizations
are featured in this space. Emphasis is given to purpose, chief characteristics, and availability of products and materials. Endorsement by Science or AAAS of any
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pH Electrodes
YSI showcases a strong set of pH
measuring options for the lab. The Io-
Line electrodes host a unique iodine/
iodide reference system with a patented
three-chamber reservoir system. IoLine
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Comet Assay Microplate
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enables reproducible and sensitive
measurements of DNA damage in
human cells and provides the necessary
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randomly dispersed in agarose on a glass
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cells in the CometChip are captured on
an array of agarose microwells. Each well
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PTR-MS Autosampler
The real-time measuring capability
of a proton transfer reaction-mass
spectrometry (PTR-MS) trace gas
analyzer is ideally suited for continuous
volatile organic compound (VOC)
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of discrete samples within seconds.
The new IONICON autosampler for
PTR-MS enables automated screening
of hundreds of sample vials. It can
be loaded with multiple sample trays
carrying up to 270 vials (20 mL)
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samples. The benchtop autosampler
allows for static and dynamic headspace
measurements. A custom-made software
controls the sampling process as
well as the PTR-MS measurement for
integrated and consistent data. Several
preprogrammed sample treatment
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for larger batches of samples and provides high-quality data.
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Milling Platform
The Fitzpatrick Company and Quadro
Engineering Corp. have launched
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ability makes it suitable for milling
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products. The SLS utilizes ìsmart-
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installedóto ensure that scalability to
production machines is maintained.
The Fitzpatrick Company
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