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1 13 June 2014 | Life Technologies Proprietary and Confidential The State of the Art - Ion RoadMap Update ESHG - Life Technologies Workshop Andy Felton.

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Presentation on theme: "1 13 June 2014 | Life Technologies Proprietary and Confidential The State of the Art - Ion RoadMap Update ESHG - Life Technologies Workshop Andy Felton."— Presentation transcript:

1 1 13 June 2014 | 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 2 13 June 2014 | Life Technologies Proprietary and Confidential Wide Adoption of Ion Semiconductor Sequencing >150 Peer Reviewed Publications

3 3 13 June 2014 | Life Technologies Proprietary and Confidential Accuracy and Workflow Improvements

4 4 13 June 2014 | Life Technologies Proprietary and Confidential Improving Ion Sequencing 2) Beads Amplification capacity Uniformity 3) Template Amplification Template length Copy number Uniformity 5) Loading Percentage loaded Simplification 6) Sequencing Biochemistry Completeness, Speed, Read Length 7) Fluidics Flow profile Efficiency Speed 4) Chips Number of sensors Wells & Surfaces Sensitivity Speed Noise reduction 8) Software Signal Processing Phase Correction Accuracy Variant Calling Speed 1)Library Prep Uniformity Speed Simplicity Ampliseq Coverage RNASeq Simplicity

5 5 13 June 2014 | Life Technologies Proprietary and Confidential PGM Performance Improvements over the last 12 months

6 6 13 June 2014 | Life Technologies Proprietary and Confidential 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 7 13 June 2014 | Life Technologies Proprietary and Confidential Modular Workflow Allows Flexibility Ion AmpliSeq Panel+ Equalizer Kit library preptemplate prepsequencinganalysis Ion Chef System Ion PGM Sequencer Initialization 23 hours total 1 hour hands-on time Torrent Server (TS) 1 run (16-20 samples/run): Cancer hotspot panel V2 + Ion Chef System + Ion bp chip

8 8 13 June 2014 | Life Technologies Proprietary and Confidential Ion AmpliSeq DNA & RNA Panels Cancer Hotspot Panel v2 50 genes >2,800 COSMIC Mutations 207 Amplicons Cancer Hotspot Panel v2 50 genes >2,800 COSMIC Mutations 207 Amplicons RNA Apoptosis Panel 267 genes TaqMan® validated RNA Apoptosis Panel 267 genes TaqMan® validated RNA Cancer Panel 50 genes Corresponds to genes in Ion AmpliSeq Cancer Hotspot v2 RNA Cancer Panel 50 genes Corresponds 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 Panel Target any gene 300 genes in single tube RNA Custom Panel Target any gene 300 genes in single tube

9 9 13 June 2014 | Life Technologies Proprietary and Confidential Ion AmpliSeq Community Panels AML Panel Coding regions of known mutations 21 genes AML Panel Coding regions of known mutations 21 genes BRCA 1&2 Panel 2 genes 167 amplicons BRCA 1&2 Panel 2 genes 167 amplicons Colon and Lung Cancer Panel 22 genes 90 amplicons Colon and Lung Cancer Panel 22 genes 90 amplicons Cardio Panel All exons and UTRs 62 genes Cardio Panel All exons and UTRs 62 genes CFTR Panel All exons, intron-exon boundaries, and UTRs 1 gene CFTR Panel All exons, intron-exon boundaries, and UTRs 1 gene TP53 Panel All exons and UTRs 1 gene TP53 Panel All exons and UTRs 1 gene coming soon available now

10 10 13 June 2014 | Life Technologies Proprietary and Confidential Ion Reporter Software 1.6 Whats 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 Broads IGV Ingenuity Variant AnalysisAneuploidy Workflow Detect CNVs in your paired Ion AmpliSeq workflows Visualize with Broads IGV One click access to data visualization (SNPs, InDels, CNVs, etc) Customized karyotype view Visualize the impact of your variants across 1000s 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 11 13 June 2014 | Life Technologies Proprietary and Confidential Ion Proton

12 12 13 June 2014 | Life Technologies Proprietary and Confidential Proton exomes are comparable to other platforms Joe Boland National Cancer Institute Proton vs. SNP chip Proton vs. HiSeq NA NA

13 13 13 June 2014 | Life Technologies Proprietary and Confidential Rapidly Improving PI Performance Mean Readlength 95 bp114 bp162 bp191 bp Filtered Reads 62 million89 million94 million Gb of Aligned Ouput

14 14 13 June 2014 | Life Technologies Proprietary and Confidential Enables Two Exomes Per Ion PI Chip Run ID G BC10G BC16 Number of mapped reads 42,916,14244,355,204 Percent reads on target 75.7%77.1% Total aligned base reads5,889,106,9716,275,436,198 Total base reads on target3,131,870,0503,370,195,602 Average base coverage depth 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 15 13 June 2014 | Life Technologies Proprietary and Confidential PII 0.84um pitch 660 M Sensors PI 1.68 um pitch 165 M Sensors Continued Scaling to PII Chip

16 16 13 June 2014 | Life Technologies Proprietary and Confidential All products mentioned in this presentation are For Research Use Only. Not for use in diagnostic procedures. © 2013 Life Technologies Corporation. All rights reserved. The trademarks mentioned herein are the property of Life Technologies Corporation and/or its affiliate(s) or their respective owners.


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