DISCOVERY AND DETECTION CARDIAC DISEASES · • Excellent coverage uniformity for all 3 panels...
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For Research Use Only. Not for use in diagnostic procedures. CARDIAC DISEASES DISCOVERY AND DETECTION SeqCap EZ Cardiology Panels Analyze genetic mutations associated with hereditary cardiac disorders SeqCap EZ Cardiology Panels are optimized hybridization-based panels for NGS that target genes associated with hereditary cardiac disorders. Each panel was developed using guidance from published literature, scientific collaborators, and Roche Sequencing Solutions’ scientific experts. • Greater than 99.0% of bases covered at 20X and 50X when each panel is sequenced to an average depth of 250X • Excellent coverage uniformity for all 3 panels (Fold 80 base penalty <1.5) • The HyperCap Workflow with SeqCap EZ Cardiology Panels streamlines the production of target-enriched libraries and ensures integrated support and one-source purchasing from a single trusted vendor Three specialized, cardiology-focused panels SeqCap Design Share Cardiology Panels Size # of genes covered SeqCap EZ Cardiomyopathy Panel 372 kb 76 SeqCap EZ Channelopathy and Arrhythmias Panel 203 kb 54 SeqCap EZ Sudden Cardiac Death Panel 610 kb 140 Sample Sequencing Ready Library S a m p l e C o ll e c ti o n S a m p l e E n r i c h m e n t N u c l e i c A c i d E x tr a c ti o n S a m p l e Q u a n ti fi c a tio n / Q C L i b r a r y P r e p a r a ti o n T a r g e t E n r i c h m e n t L i b r a r y Q u a n ti fi c a ti o n
Transcript of DISCOVERY AND DETECTION CARDIAC DISEASES · • Excellent coverage uniformity for all 3 panels...
For Research Use Only. Not for use in diagnostic procedures.
CARDIAC DISEASESDISCOVERY AND DETECTION
SeqCap EZ Cardiology PanelsAnalyze genetic mutations associated with hereditary cardiac disorders
SeqCap EZ Cardiology Panels are optimized hybridization-based panels for NGS that target genes associated with hereditary cardiac disorders. Each panel was developed using guidance from published literature, scientific collaborators, and Roche Sequencing Solutions’ scientific experts.
• Greater than 99.0% of bases covered at 20X and 50X when each panel is sequenced to an average depth of 250X
• Excellent coverage uniformity for all 3 panels (Fold 80 base penalty <1.5)
• The HyperCap Workflow with SeqCap EZ Cardiology Panels streamlines the production of target-enriched libraries and ensures integrated support and one-source purchasing from a single trusted vendor
Three specialized, cardiology-focused panels
SeqCap Design Share Cardiology Panels Size # of genes covered
SeqCap EZ Cardiomyopathy Panel 372 kb 76
SeqCap EZ Channelopathy and Arrhythmias Panel 203 kb 54
SeqCap EZ Sudden Cardiac Death Panel 610 kb 140
Sample Sequencing Ready Library
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Acid Extraction
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reparation
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et E
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uantification
2Data on file. For Research Use Only. Not for use in diagnostic procedures.
SeqCap EZ Cardiomyopathy Panel
• Achieve comprehensive, uniform coverage of 76 genes from the CCDS and ClinVar databases
• Attain 100% coverage at 20X and >99.9% coverage at 50X with an average sequencing depth of 250X
Figure 1. Performance metrics for the SeqCap EZ Cardiomyopathy Panel. Target-enriched libraries were prepared using HapMap gDNA as input into the HyperCap Workflow v2.0 using the KAPA HyperPrep Library Preparation Kit. Different DNA samples were used to generate 8 individual libraries which were then 8-plexed prior to capture with the SeqCap EZ Cardiomyopathy Panel using 125 ng of each library. Captures were performed in duplicate; bars represent average values within each capture. Sequencing was performed on an Illumina® MiSeq® instrument (MiSeq Reagent Kit v2; 2 x 101 bp). For analysis, reads were subsampled to an average coverage depth of 250X.
A) Capture efficiency. Percent of mapped non-duplicate reads on-target is the percent of mapped, de-duplicated reads overlapping the target region by at least 1 bp, with no padding or buffer. The percent of bases in padded targets is the percent of bases that fall within 250 bp of the primary target regions of the panel. B) Uniformity. Fold 80 base penalty is a measure of sequencing uniformity; lower numbers are better, with the best theoretical value equal to 1. Zero coverage regions are excluded. C) Variant coverage. Bars indicate % coverage indicated depths (20X or 50X). D) Coverage depth vs sequencing reads.
SeqCap EZ Cardiomyopathy Panel
Panel size 76 genes; 372 kb
This research panel covers genes associated with the following disorders:
Hypertrophic Cardiomyopathy, Arrhythmogenic Right Ventricular Cardiomyopathy, Dilated Cardiomyopathy, Left Ventricular Non-Compaction Cardiomyopathy, and Restrictive Cardiomyopathy
Replicate 1 Replicate 2
Percent reads on-target
% mapped non-duplicate reads on-target (primary) % bases in padded target
61.8
73.4 74.0
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% bases ≥20X % bases ≥50X
100 99.90 100 99.96
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3Data on file. For Research Use Only. Not for use in diagnostic procedures.
SeqCap EZ Channelopathy and Arrhythmias Panel
• Achieve comprehensive, uniform coverage of 54 genes from the CCDS and ClinVar databases
• Attain 100% coverage at 20X and 50X with an average sequencing depth of 250X
SeqCap EZ Channelopathy and Arrhythmias Panel
Panel size 54 genes; 203 kb
This research panel covers genes associated with the following disorders:
Long QT 1-7, Cathecholaminergic Polymorphic Ventricular Tachycardia, Idiopathic VT (regional), Brugada Syndrome, Arrythmogenic Right Ventricular Cardiomyophathy, Sick Sinus Syndrome/Atrial Standstill, Short QT Syndrome, and Familial Atrial Fibrillation
Figure 2. Performance metrics for the SeqCap EZ Channelopathy and Arrhythmias Panel. Target-enriched libraries were prepared using HapMap gDNA as input into the HyperCap Workflow v2.0 using the KAPA HyperPrep Library Preparation Kit. Different DNA samples were used to generate 8 individual libraries which were then 8-plexed prior to capture with the SeqCap EZ Channelopathy and Arrythmias Panel using 125 ng of each library. Captures were performed in duplicate; bars represent average values within each capture. Sequencing was performed on an Illumina® MiSeq® instrument (MiSeq Reagent Kit v2; 2 x 101 bp). For analysis, reads were subsampled to an average coverage depth of 250X.
A) Capture efficiency. Percent of mapped non-duplicate reads on-target is the percent of mapped, de-duplicated reads overlapping the target region by at least 1 bp, with no padding or buffer. The percent of bases in padded targets is the percent of bases that fall within 250 bp of the primary target regions of the panel. B) Uniformity. Fold 80 base penalty is a measure of sequencing uniformity; lower numbers are better, with the best theoretical value equal to 1. Zero coverage regions are excluded. C) Variant coverage. Bars indicate % coverage indicated depths (20X or 50X). D) Coverage depth vs sequencing reads.
Replicate 1 Replicate 2
Percent reads on-target
% mapped non-duplicate reads on-target (primary) % bases in padded target
66.4
84.7
69.8
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Mean coverage vs reads
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4Data on file. For Research Use Only. Not for use in diagnostic procedures.
SeqCap EZ Sudden Cardiac Death Panel
• Achieve comprehensive, uniform coverage of 140 genes from the CCDS and ClinVar databases
• Attain 100% coverage at 20X and >99.9% coverage at 50X with an average sequencing depth of 250X
SeqCap EZ Sudden Cardiac Death Panel
Panel size 140 genes; 610 kb
This research panel covers genes associated with the following disorders:
All disorders covered by the Cardiomyopathy Panel and the Channelopathy and Arrythmias Panel, plus other thoracic aortic aneurysms and dissections, Marfan’s Syndrome, and Loeys-Dietz Syndrome
Figure 3. Performance metrics for the SeqCap EZ Sudden Cardiac Death Panel. Target-enriched libraries were prepared using HapMap gDNA as input into the HyperCap Workflow v2.0 using the KAPA HyperPrep Library Preparation Kit. Different DNA samples were used to generate 8 individual libraries which were then 8-plexed prior to capture with the SeqCap EZ Sudden Cardiac Death Panel using 125 ng of each library. Captures were performed in duplicate; bars represent average values within each capture. Sequencing was performed on an Illumina® MiSeq® instrument (MiSeq Reagent Kit v2; 2 x 101 bp). For analysis, reads were subsampled to an average coverage depth of 250X.
A) Capture efficiency. Percent of mapped non-duplicate reads on-target is the percent of mapped, de-duplicated reads overlapping the target region by at least 1 bp, with no padding or buffer. The percent of bases in padded targets is the percent of bases that fall within 250 bp of the primary target regions of the panel. B) Uniformity. Fold 80 base penalty is a measure of sequencing uniformity; lower numbers are better, with the best theoretical value equal to 1. Zero coverage regions are excluded. C) Variant coverage. Bars indicate % coverage indicated depths (20X or 50X). D) Coverage depth vs sequencing reads.
Replicate 1 Replicate 2
Percent reads on-target
% mapped non-duplicate reads on-target (primary) % bases in padded target
77.4
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Percent of bases covered at 20X and 50X
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100 99.98 100 99.97
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Data on file.For Research Use Only. Not for use in diagnostic procedures.HYPERCAP, KAPA, and SEQCAP are trademarks of Roche. All other product names and trademarks are the property of their respective owners. © 2019 Roche Sequencing and Life Science. All rights reserved. SS508008 MC-US-03018 A442 1/19
Published by:
Roche Sequencing and Life Science 9115 Hague Road Indianapolis, IN 46256
sequencing.roche.com
SeqCap EZ Design Share: Cardiology PanelsSeqCap EZ Cardiology Panels are part of Roche Sequencing Solutions’ Design Share Portfolio. Design 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. Review the full portfolio at sequencing.roche.com/designshare.
Learn about HyperCap Workflow—an integrated, <2-day sample preparation workflow for target-enriched NGS that combines KAPA library preparation and SeqCap target enrichment probes—at sequencing.roche.com/hypercap.
Ordering Information
Product Name Reactions Catalog #
SeqCap EZ Share Prime Choice – Cardiomyopathy Panel Design name: 171129_HG38_CardioP1_REZ_HX3 Internal reference number: 4000034930
24 08333068001
96 08333076001
384 08333084001
SeqCap EZ Share Prime Choice – Channelopathy and Arrhythmias Panel Design name: 171129_HG38_CardioP2_REZ_HX3 Internal reference number: 4000034940
24 08333068001
96 08333076001
384 08333084001
SeqCap EZ Share Prime Choice – Sudden Cardiac Death Panel Design name: 171129_HG38_CardioP3_REZ_HX3 Internal reference number: 4000034950
24 08333068001
96 08333076001
384 08333084001
Request an evaluation:go.roche.com/DesignShareSample
