Genetic Engineering & Biotechnology News

AUG 2016

Genetic Engineering & Biotechnology News (GEN) is the world's most widely read biotech publication. It provides the R&D; community with critical information on the tools, technologies, and trends that drive the biotech industry.

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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 Percent of bases Depth of coverage Roche MedExome Supplier A's 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% Percent of total GeneTests genes covered Percent of each GeneTests gene's coding bases covered at ≥20X Roche MedExome Supplier A's Clinical Research Exome Figure 1. Roche's SeqCap EZ MedExome kit demonstrated sustained coverage at 100% and more uniform coverage than Supplier A's 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 A's product, the targets are unpadded. SeqCap EZ MedExome kit target refl ects 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% (≥20X coverage) vs. 6% by Supplier A's Clinical Research Exome. Percentage of bases covered at ≥20X for each consolidated target was determined using GATK (DepthOfCoverage), summarized by gene. Supplier A kit's data was generated by a third-party sequencing service provider, following Supplier A's protocol. All reads were subsampled to 60 million for assessment, then subjected to the same bioinformatics pipeline for analysis.* 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 Diagnostics Corporation 9115 Hague Road Indianapolis, Indiana 46256 For life science research only. Not for use in diagnostic procedures. For patent license limitations for individual products please refer to: www.technical-support.roche.com * Roche data on fi le. 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 Supplier A's Clinical Research Exome Roche 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 perfor- mance evaluation by both kits. Performance was determined post-enrichment following SeqCap EZ User's Guide v5.1. Supplier A's kit data was generated by a 3rd party service provider following vendor's protocol. All reads were sub- sampled 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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