DISCOVERY DETECTION. SeqCap EZ Cardiology Panels Analyze genetic mutations associated with the research of hereditary cardiac disorders

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1 Seqap EZ ardiology Panels nalyze genetic mutations associated with the research of hereditary cardiac disorders ISOVERY ETETION Seqap EZ ardiology Panels enable researchers to detect variants in genes that are most commonly associated with hereditary cardiac disorders. eveloped using guidance from publications, literature, and Roche Sequencing Solutions scientific experts, Seqap EZ ardiology Panels are optimized for use with Hyperap Workflow, which integrates KP library preparation and Seqap EZ target enrichment products in a single streamlined workflow. Panels escription Seqap EZ ardiomyopathy Panel: 76 gene (372 kb) panel for research on genes commonly associated with heart muscle disorders Seqap EZ hannelopathy and rrhythmias Panel: 54 gene (23 kb) panel for research on genes involved in ion channel defects and irregular heartbeat Seqap EZ Sudden ardiac eath Panel: 14 gene (61 kb) panel for research on genes associated with ardiomyopathies, rrhythmias, hannelopathies, Marfan s Syndrome, and Loeys-ietz Syndrome Features and enefits Panel breadth: Focused and comprehensive panels to encompass different research needs Improved uniformity: Enabling more even target coverage and increased sequencing efficiency Expert-driven content: omprehensive gene coverage for cardiology research enabling rare variant detection Single vendor and support: ompatible with the Hypercap Workflow, convenient one-stop shop for ordering, service, and support for a complete sample prep solution

2 Performance Metrics Seqap EZ ardiomyopathy Panel omprehensive coverage of 76 genes from S and linvar databases for cardiomyopathy research chieve uniform sequencing depth with a low Fold 8 base penalty omplete coverage at 2X and nearly complete coverage at 5X when this research panel is sequenced to an average depth of 25X Fold 8 base penalty verage of Fold 8 base penalty Percent of bases covered at 2X and 5X verage of % bases 2 verage of % bases with no padding or buffer. The percent of bases in padded targets is the percent of captured and sequenced bases which fall within 25 bp of the primary target regions of the panel. () Uniformity of sequencing. Fold 8 base penalty is a measure of uniformity produced by the Picard tools, and is the fold additional sequencing required to bring 8% of bases to the mean coverage. This is a measure of sequence depth uniformity lower is better with the best theoretical value equal to 1. Zero coverage regions are excluded. () overage for variant calling. ars indicate complete coverage at 2X for all panels, and nearly complete coverage at 5X, when each panel is sequenced to an average depth of 25X. () epth of coverage Library Preparation Kit following the Seqap EZ Hyperap Workflow User s Guide v2.. aptures were 8-plexed (using 125 ng of each sample library). Each capture was sequenced using an Illumina MiSeq sequencing instrument (MiSeq Reagent Kit v2; 2 x 11 bp) Reads were sampled at intervals of 25, reads, and the mean, de-duplicated depth of coverage was determined at each sampling level. (,, and ) Replicate captures were performed for each cardiology research panel. Eight different HapMap samples were prepared using KP HyperPrep Library Preparation Kit following the Seqap EZ Hyperap Workflow User s Guide v2.. aptures were 8-plexed (using 125 ng of each sample library). Each capture was sequenced using an Illumina MiSeq sequencing instrument (MiSeq Reagent Kit v2; 2 x 11 bp) ata was subsampled to an average coverage depth of 25X. Seqap EZ ardiomyopathy Panel isorders overed by Research Panel 76 genes; 372 kb Internal Reference # esign Name Hypertrophic ardiomyopathy, rrhythmogenic Right Ventricular ardiomyopathy, ilated ardiomyopathy, Left Ventricular Non-ompaction ardiomyopathy, and Restrictive ardiomyopathy Seqap EZ Share Prime hoice _HG38_ardioP1_REZ_HX3 2

3 Seqap EZ hannelopathy and rrhythmias Panel omprehensive coverage of 54 genes from S and linvar databases for channelopathy and arrhythmias research chieve uniform sequencing depth with a low Fold 8 base penalty omplete coverage at 2X and nearly complete coverage at 5X when this research panel is sequenced to an average depth of 25X Fold 8 base penalty verage of Fold 8 base penalty Percent of bases covered at 2X and 5X verage of % bases 2 verage of % bases with no padding or buffer. The percent of bases in padded targets is the percent of captured and sequenced bases which fall within 25 bp of the primary target regions of the panel. () Uniformity of sequencing. Fold 8 base penalty is a measure of uniformity produced by the Picard tools, and is the fold additional sequencing required to bring 8% of bases to the mean coverage. This is a measure of sequence depth uniformity lower is better with the best theoretical value equal to 1. Zero coverage regions are excluded. () overage for variant calling. ars indicate complete coverage at 2X for all panels, and nearly complete coverage at 5X, when each panel is sequenced to an average depth of 25X. () epth of coverage Library Preparation Kit following the Seqap EZ Hyperap Workflow User s Guide v2.. aptures were 8-plexed (using 125 ng of each sample library). Each capture was sequenced using an Illumina MiSeq sequencing instrument (MiSeq Reagent Kit v2; 2 x 11 bp). Reads were sampled at intervals of 25, reads, and the mean, de-duplicated depth of coverage was determined at each sampling level. (,, and ) Replicate captures were performed for each cardiology research panel. Eight different HapMap samples were prepared using KP HyperPrep Library Preparation Kit following the Seqap EZ Hyperap Workflow User s Guide v2.. aptures were 8-plexed (using 125 ng of each sample library). Each capture was sequenced using an Illumina MiSeq sequencing instrument (MiSeq Reagent Kit v2; 2 x 11 bp). ata was subsampled to an average coverage depth of 25X. Seqap EZ hannelopathy and rrhythmias Panel isorders overed by Research Panel 54 genes; 23 kb Internal Reference # esign Name Long QT 1-7, athecholaminergic Polymorphic Ventricular Tachycardia, Idiopathic VT (regional), rugada Syndrome, rrythmogenic Right Ventricular ardiomyophathy, Sick Sinus Syndrome/trial Standstill, Short QT Syndrome, and Familial trial Fibrillation Seqap EZ Share Prime hoice _HG38_ardioP2_REZ_HX3 3

4 Seqap EZ Sudden ardiac eath Panel omprehensive coverage of 14 genes from S and linvar databases for sudden cardiac death research chieve uniform sequencing depth with a low Fold 8 base penalty omplete coverage at 2X and nearly complete coverage at 5X when this research panel is sequenced to an average depth of 25X Fold 8 base penalty verage of Fold 8 base penalty Percent of bases covered at 2X and 5X verage of % bases 2 verage of % bases with no padding or buffer. The percent of bases in padded targets is the percent of captured and sequenced bases which fall within 25 bp of the primary target regions of the panel. () Uniformity of sequencing. Fold 8 base penalty is a measure of uniformity produced by the Picard tools, and is the fold additional sequencing required to bring 8% of bases to the mean coverage. This is a measure of sequence depth uniformity lower is better with the best theoretical value equal to 1. Zero coverage regions are excluded. () overage for variant calling. ars indicate complete coverage at 2X for all panels, and nearly complete coverage at 5X, when each panel is sequenced to an average depth of 25X. () epth of coverage Library Preparation Kit following the Seqap EZ Hyperap Workflow User s Guide v2.. aptures were 8-plexed (using 125 ng of each sample library). Each capture was sequenced using an Illumina MiSeq sequencing instrument (MiSeq Reagent Kit v2; 2 x 11 bp). Reads were sampled at intervals of 25, reads, and the mean, de-duplicated depth of coverage was determined at each sampling level. (,, and ) Replicate captures were performed for each cardiology research panel. Eight different HapMap samples were prepared using KP HyperPrep Library Preparation Kit following the Seqap EZ Hyperap Workflow User s Guide v2.. aptures were 8-plexed (using 125 ng of each sample library). Each capture was sequenced using an Illumina MiSeq sequencing instrument (MiSeq Reagent Kit v2; 2 x 11 bp). ata was subsampled to an average coverage depth of 25X. Seqap EZ Sudden ardiac eath Panel isorders overed by Research Panel 14 genes; 61 kb Internal Reference # esign Name Panel 1 disorders + Panel 2 disorders plus other thoracic aortic aneurysms and dissections, Marfan s Syndrome, and Loeys-ietz Syndrome Seqap EZ Share Prime hoice _HG38_ardioP3_REZ_HX3 4

5 Process more samples successfully, get more information from every sample and optimize your sequencing resources with solutions that are Proven, Simple and omplete. esign Share Portfolio Seqap EZ ardiology Panels are now available as part of Roche Sequencing Solutions esign Share Portfolio. esign Share makes it easy to access pre-designed NGS panels that are developed by Roche Sequencing Solutions or in collaboration with researchers around the world. Our newest panels include: Seqap EZ Human Oncology Panel: omprehensive pan-cancer coverage of 981 genes in a single research panel Seqap EZ Inherited isease Panel: 4,1 gene research panel on genes commonly associated with human genetic disorders To access the full portfolio and design files, please visit: sequencing.roche.com/designshare. ontact us! Please contact us for gene list and demo data. Published by: Roche Sequencing Solutions, Inc. 43 Hacienda rive Pleasanton, sequencing.roche.com HYPERP, KP and SEQP are trademarks of Roche. ll other product names and trademarks are the property of their respective owners. 218 Roche Sequencing Solutions, Inc. ll rights reserved. SEQ1225 5/18