1 13 june 2014 | life technologies proprietary and confidential the state of the art - ion roadmap...
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1 April 11, 2023
| Life Technologies™ Proprietary and Confidential
The State of the Art - Ion RoadMap Update
ESHG - Life Technologies Workshop
Andy Felton Ph.D
Head Product Management – Ion Torrent
2 April 11, 2023
| Life Technologies™ Proprietary and Confidential
Wide Adoption of Ion Semiconductor Sequencing >150 Peer Reviewed Publications
2012 2013
3 April 11, 2023
| Life Technologies™ Proprietary and Confidential
Accuracy and Workflow Improvements
4 April 11, 2023
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Improving Ion Sequencing2) Beads
Amplification capacity Uniformity
3) Template AmplificationTemplate lengthCopy numberUniformity
5) LoadingPercentage loadedSimplification
6) Sequencing BiochemistryCompleteness, Speed, Read Length
7) FluidicsFlow profileEfficiencySpeed
4) ChipsNumber of sensorsWells & SurfacesSensitivitySpeedNoise reduction
8) Software Signal ProcessingPhase CorrectionAccuracyVariant CallingSpeed
1) Library PrepUniformitySpeedSimplicityAmpliseq CoverageRNASeq Simplicity
5 April 11, 2023
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PGM Performance Improvements over the last 12 months
6 April 11, 2023
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Ion Chef™ System: Simple, High Throughput, Modular Benchtop Sequencing Preparation
Simple fully automated workflow – 15 mins of Hands-on-Time
Input 2 Libraries and output 2 chips
Supports sequencing preparation for the Ion PGM™ and Proton™ systems and chips
7 April 11, 2023
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Modular Workflow Allows Flexibility
Ion AmpliSeq™ Panel+
Equalizer™ Kit
4 8 12 16 20 24 28 32 360
library prep template prep sequencing analysis
Ion Chef™ System
Ion PGM™ Sequencer
Initialization
23 hours total1 hour hands-on time
Torrent Server (TS)
1 run (16-20 samples/run):
Cancer hotspot panel V2 + Ion Chef™ System + Ion 318™ 200bp chip
8 April 11, 2023
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Ion AmpliSeq DNA & RNA Panels
Cancer Hotspot Panel v250 genes >2,800 COSMIC Mutations 207 Amplicons
Cancer Hotspot Panel v250 genes >2,800 COSMIC Mutations 207 Amplicons
RNA Apoptosis Panel267 genesTaqMan® validated
RNA Apoptosis Panel267 genesTaqMan® validated
RNA Cancer Panel50 genesCorresponds to genes in Ion AmpliSeq™ Cancer Hotspot v2
RNA Cancer Panel50 genesCorresponds to genes in Ion AmpliSeq™ Cancer Hotspot v2
Comprehensive Cancer Panel 409 Genes 16,000 Amplicons
Comprehensive Cancer Panel 409 Genes 16,000 Amplicons
Inherited Disease Panel 700 Diseases 328 Genes 10,000 Amplicons
Inherited Disease Panel 700 Diseases 328 Genes 10,000 Amplicons
RNA Custom PanelTarget any gene300 genes in single tube
RNA Custom PanelTarget any gene300 genes in single tube
9 April 11, 2023
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Ion AmpliSeq Community Panels
AML PanelCoding regions of known mutations21 genes
AML PanelCoding regions of known mutations21 genes
BRCA 1&2 Panel2 genes167 amplicons
BRCA 1&2 Panel2 genes167 amplicons
Colon and Lung Cancer Panel22 genes90 amplicons
Colon and Lung Cancer Panel22 genes90 amplicons
Cardio PanelAll exons and UTRs62 genes
Cardio PanelAll exons and UTRs62 genes
CFTR PanelAll exons, intron-exon boundaries, and UTRs1 gene
CFTR PanelAll exons, intron-exon boundaries, and UTRs1 gene
TP53 PanelAll exons and UTRs1 gene
TP53 PanelAll exons and UTRs1 gene
comingsoon
comingsoon
available now
available now
10 April 11, 2023
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Ion Reporter™ Software 1.6What’s new in Ion Reporter 1.6
No charge for Ion Reporter™ Software, Compendia Oncomine™, or Ingenuity® Variant Analysis™ till August 2013
Oncomine® Copy Number Analysis
Broad’s IGVIngenuity Variant AnalysisAneuploidy Workflow
•Detect CNVs in your paired Ion AmpliSeq workflows
•Visualize with Broad’s IGV
•One click access to data visualization (SNPs, InDels, CNVs, etc)
•Customized karyotype view
•Visualize the impact of your variants across 1000’s of cancer samples
•Enabled for all oncology workflows
• Identify biologically relevant variants
•Shortlisted variants can be returned to Ion Reporter
• Identify biologically relevant variants
•Shortlisted variants can be returned to Ion Reporter
11 April 11, 2023
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Ion Proton
12 April 11, 2023
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Proton exomes are comparable to other platformsJoe Boland National Cancer Institute
Proton vs. SNP chip
Proton vs. HiSeq
NA12889 0.9920 0.9856NA12890 0.9923 0.9868
13 April 11, 2023
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Rapidly Improving PI Performance
Mean Readlength 95 bp 114 bp 162 bp 191 bp
Filtered Reads 62 million 89 million 94 million 94 million
Gb of Aligned Ouput
14 April 11, 2023
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Enables Two Exomes Per Ion PI Chip
Run ID G38-205-BC10 G38-205-BC16Number of mapped reads 42,916,142 44,355,204
Percent reads on target 75.7% 77.1%
Total aligned base reads 5,889,106,971 6,275,436,198 Total base reads on target 3,131,870,050 3,370,195,602 Average base coverage depth 67.8 72.9
Uniformity of base coverage 90.4% 90.5%
Target base coverage at 1x 97.4% 97.5%
Target base coverage at 20x 86.0% 87.3%
Target base coverage at 100x 20.5% 23.9%
Library
15 April 11, 2023
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PII 0.84um pitch660 M Sensors
PI 1.68 um pitch 165 M Sensors
Continued Scaling to PII Chip
16 April 11, 2023
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All products mentioned in this presentation are For Research Use Only.Not for use in diagnostic procedures.
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