NGS, a suitable approach for TP53 screening in CLL?
|
|
- Daniel Bruce
- 6 years ago
- Views:
Transcription
1 NGS, a suitable approach for TP53 screening in CLL? Ferran Nadeu 2nd ERIC WORKSHOP ON TP53 ANALYSIS IN CHRONIC LYMPHOCYTIC LEUKEMIA 7-8 November 2017, Stresa (Italy)
2 The Sanger sequencing bottleneck 1 patient + TP53 4 PCR/case* = 20 patients + TP53 4 PCR/case* = 400 patients + TP53 4 PCR/case* = 4 PCRs 100 PCRs 1600 PCRs * Exon 4, exons 5-6, exon 7, exons 8-9.
3 The Sanger sequencing bottleneck 1 patient + TP53, SF3B1, BIRC3, NOTCH1 TP53 and ATM 75 4 PCR/case* PCR/case = 20 patients + TP53, SF3B1, BIRC3, NOTCH1 TP53 and ATM 75 4 PCR/case* PCR/case = 400 patients + TP53, SF3B1, BIRC3, TP53 NOTCH1 and ATM 4 PCR/case* 75 PCR/case = 75 4 PCRs PCRs PCRs Nadeu et al Blood 2016
4 Outline 1. NGS overcomes this Sanger sequencing bottleneck (focus on the Access-Array system) 2. NGS for TP53 analysis: a) Access-Array system b) Comparison of NGS libraries 3. Pros and cons of the use of NGS: a) Sensitivity b) Bioinformatic analysis c) Accuracy d) Possibility to study several genes simultaneously (i.e. panel of genes)
5 4-Primer Amplicon Tagging Access-Array system (Fluidigm) Quick overview Amplicon-based 15 amplicons of 180bp
6 Access-Array system (Fluidigm) Quick overview IFC controller AX 2304 individual reactions chambers (30 nl) Access Array IFC (Integrated Fluidic Circuit)
7 Access-Array system (Fluidigm) Quick overview IFC BioMark controller HDAX Access Array IFC (Integrated Fluidic Circuit)
8 Access-Array system (Fluidigm) Quick overview IFC controller AX Access Array IFC (Integrated Fluidic Circuit)
9 Access-Array system (Fluidigm) Quick overview Clean-up Access Array IFC (Integrated Fluidic Circuit)
10 Access-Array system Up to 480 amplicons Multiplexing 2nd PCR done in a 96-well plate in a or al ther ocycler Figures adapted from Access-Array System User Guide (Fluidigm).
11 Outline 1. NGS overcomes this Sanger sequencing bottleneck (Access-Array system) 2. NGS for TP53 analysis: a) Access-Array system b) Comparison of NGS libraries 3. Pros and cons of the use of NGS: a) Sensitivity b) Bioinformatic analysis c) Accuracy d) Possibility to study several genes simultaneously
12 Coverage/depth in NGS A T G C C T G A T G Coverage A T G C C T G T G C C T G A T G C C T G A G C C T G A T G C C T G A T A T G C C T G Spencer et al J Mol Diagn 2014
13 Access-Array system for TP53 analysis
14 Access-Array system (Fluidigm) Coverage Nadeu et al Blood 2016
15 Access-Array system (Fluidigm) Coverage A coverage >1000x was obtained in >85% of the sequence in 95% of the samples Nadeu et al Blood 2016
16 Comparison of NGS libraries for TP53 screening Capture hybridization-based Amplicon-based Acces-Array - Flluidigm AmpliSeq - ThermoFisher (Ion Torrent) Genereadv2/QIASeq - QIAgen Multiplicom - Agilent TruSeq Custom Amplicon - Agilent TruSeq Custom Amplicon DS Agilent NexteraXT - Illumina SureSelect - Agilent SeqCap EZ System -Nimblegen/Roche xgen Lockdown - IDT Haloplex Agilent Nextera XT - Illumina
17 Comparison of NGS libraries for TP53 screening Amplicon-based Capture hybridization-based
18 Outline 1. NGS overcomes this Sanger sequencing bottleneck (Access-Array system) 2. NGS for TP53 analysis: a) Access-Array system b) Comparison of NGS libraries 3. Pros and cons of the use of NGS: a) Sensitivity b) Bioinformatic analysis c) Accuracy d) Possibility to study several genes simultaneously
19 Pros and cons of NGS: Sensitivity Nadeu et al Blood 2016
20 Pros and cons of NGS: Sensitivity Rossi et al Blood 2014: 30% (15/50) patients carried only subclonal TP53 mutations 8% (4/50) patients carried isolated del(17p) NGS: 92% (46/50) of patients with TP53 alterations Sanger + FISH: 70% (35/50) of patients with TP53 alterations Nadeu et al Blood 2016: 34% (16/47) patients carried only subclonal TP53 mutations 9% (4/47) patients carried isolated del(17p) NGS: 91% (43/47) of patients with TP53 alterations Sanger + SNP array: 66% (31/47) of patients with TP53 alterations
21 Pros and cons of NGS: Bioinformatic analysis Spencer et al J Mol Diagn 2014 Sequencing error rate: Platform Chemistry Read length Genomic context...
22 Pros and cons of NGS: Bioinformatic analysis SVC Nadeu et al Blood 2016
23 Pros and cons of NGS: Bioinformatic analysis SVC Nadeu et al Blood 2016
24 VAF % VAF <12% Pros and cons of NGS: Accuracy (Sanger sequencing on 302 regions/genes detected 69 mutations) 100% specificity and 100% sensitivity (43 cases carrying high frequency mutations were subjected to a second round of NGS) 100% reproducibility 88 mutations verified by AS-PCR 77 mutations verified by a 2nd round of NGS 13/13 were also verified by AS-PCR Verification: AS-PCR or 2nd run of NGS After a non-stringent custom filtering 75% specificity < % of VAF Nadeu et al Blood 2016
25 Time Euros Benefit Pros and cons of NGS: Scalability n Genes targeted Precision medicine Cost Hands-on 0 1 n Number of genes targeted
26 Pros and cons of NGS: Panel of genes Nadeu et al Leukemia 2017
27 Pros and cons of NGS: Panel of genes Nadeu et al Leukemia 2017 Guièze et al Blood 2015
28 Take home messages NGS libraries and TP53 Easy design Short hands-on time Compatible with multiple sequencing platforms (Illumina, Ion Torrent, etc.) Percentage of amplification success 95%, and good accuracy (>90% mapping to target) Uniform coverage Highly sensitive and reproducible approach to detect mutations in TP53 and other genes in clinical samples NGS in the clinics Many different library approaches work well. We may face a CLL (or lymphoma) panel rather than analyzing an individual gene Which genes? How we validate it in larger cohorts? Should we sequence the normal DNA? It could be useful for the study of ATM mutations and for the variant calling. Bioinformatic approach (still not well defined) A gold-standard bioinformatic pipeline for deep-targeted NGS is not yet stablished. Limited accuracy in the detection of clinically relevant very low VAF mutations. Verification may be needed. Feasible identification of CNA [del(17p), del(11q)] from the same NGS data is still pending. should all this be uniform for the different centers?
29 Acknowledgment Elías Campo Cristina Capdevila Sara Guijarro Julio Delgado Guillem Clot Anna Enjuanes Magda Pinyol Helena Suárez-Cisneros Montse Sanchez Laura Pla Thank you for your attention!
SEQUENCING FROM SAMPLE TO SEQUENCE READY
SEQUENCING FROM SAMPLE TO SEQUENCE READY ACCESS ARRAY SYSTEM HIGH-QUALITY LIBRARIES NOT ONCE, BUT EVERY TIME n The highest quality amplicons more sensitive, accurate, and specific n Full support for all
More informationAccess Array BRCA1 / BRCA2 / TP53 Target-Specific Panel Build the highest quality amplicon libraries with qualified assays
DATA SHEET PN 100-3489 B1 Access Array BRCA1 / BRCA2 / TP53 Target-Specific Panel Build the highest quality amplicon libraries with qualified assays Covers 100% of the exons within the genes Supported
More informationMaximizing your NGS sequencing with IDT. Adam Chernick, PhD Field Applications Manager, Functional Genomics
Maximizing your NGS sequencing with IDT Adam Chernick, PhD Field Applications Manager, Functional Genomics 1 Contents Expanding our NGS portfolio what s next? xgen technology and Lockdown probe advantages
More informationOutline General NGS background and terms 11/14/2016 CONFLICT OF INTEREST. HLA region targeted enrichment. NGS library preparation methodologies
Eric T. Weimer, PhD, D(ABMLI) Assistant Professor, Pathology & Laboratory Medicine, UNC School of Medicine Director, Molecular Immunology Associate Director, Clinical Flow Cytometry, HLA, and Immunology
More informationSample to Insight. Dr. Bhagyashree S. Birla NGS Field Application Scientist
Dr. Bhagyashree S. Birla NGS Field Application Scientist bhagyashree.birla@qiagen.com NGS spans a broad range of applications DNA Applications Human ID Liquid biopsy Biomarker discovery Inherited and somatic
More informationLab methods: Exome / Genome. Ewart de Bruijn
Lab methods: Exome / Genome 27 06 2013 Ewart de Bruijn Library prep is only a small part of the complete DNA analysis workflow DNA isolation library prep enrichment flowchip prep sequencing bioinformatics
More informationGENOTYPING-BY-SEQUENCING USING CUSTOM ION AMPLISEQ TECHNOLOGY AS A TOOL FOR GENOMIC SELECTION IN ATLANTIC SALMON
GENOTYPING-BY-SEQUENCING USING CUSTOM ION AMPLISEQ TECHNOLOGY AS A TOOL FOR GENOMIC SELECTION IN ATLANTIC SALMON Matthew Baranski, Casey Jowdy, Hooman Moghadam, Ashie Norris, Håvard Bakke, Anna Sonesson,
More informationQIAseq SPE technology for Illumina : Redefining amplicon sequencing
Application Note QIAseq SPE technology for Illumina : Redefining amplicon sequencing Amplicon-based enrichment and sequencing takes advantage of PCR workflows to turn amplicons that represent regions of
More informationNext Generation Sequencing. Target Enrichment
Next Generation Sequencing Target Enrichment Next Generation Sequencing Your Partner in Every Step from Sample to Data NGS: Revolutionizing Genetic Analysis with Single-Molecule Resolution Next generation
More informationSurely Better Target Enrichment from Sample to Sequencer
sureselect TARGET ENRICHMENT solutions Surely Better Target Enrichment from Sample to Sequencer Agilent s market leading SureSelect platform provides a complete portfolio of catalog to custom products,
More informationHaloPlex HS. Get to Know Your DNA. Every Single Fragment. Kevin Poon, Ph.D.
HaloPlex HS Get to Know Your DNA. Every Single Fragment. Kevin Poon, Ph.D. Sr. Global Product Manager Diagnostics & Genomics Group Agilent Technologies For Research Use Only. Not for Use in Diagnostic
More informationFundamentals of Next-Generation Sequencing: Technologies and Applications
Fundamentals of Next-Generation Sequencing: Technologies and Applications Society for Hematopathology European Association for Haematopathology 2017 Workshop Eric Duncavage, MD Washington University in
More informationGet to Know Your DNA. Every Single Fragment.
HaloPlex HS NGS Target Enrichment System Get to Know Your DNA. Every Single Fragment. High sensitivity detection of rare variants using molecular barcodes How Does Molecular Barcoding Work? HaloPlex HS
More informationKAPA hgdna QUANTIFICATION AND QC KIT:
Poster Note As presented at AGBT 2015, Marco Island, FL KAPA hgdna QUANTIFICATION AND QC KIT: The KAPA Human Genomic DNA Quantification and QC Kit Enables Prediction of Sequencing Performance through User-Defined
More informationA Crash Course in NGS for GI Pathologists. Sandra O Toole
A Crash Course in NGS for GI Pathologists Sandra O Toole The Sanger Technique First generation sequencing Uses dideoxynucleotides (dideoxyadenine, dideoxyguanine, etc) These are molecules that resemble
More informationIncorporating Molecular ID Technology. Accel-NGS 2S MID Indexing Kits
Incorporating Molecular ID Technology Accel-NGS 2S MID Indexing Kits Molecular Identifiers (MIDs) MIDs are indices used to label unique library molecules MIDs can assess duplicate molecules in sequencing
More informationIntroducing QIAseq. Accelerate your NGS performance through Sample to Insight solutions. Sample to Insight
Introducing QIAseq Accelerate your NGS performance through Sample to Insight solutions Sample to Insight From Sample to Insight let QIAGEN enhance your NGS-based research High-throughput next-generation
More informationFunctional DNA Quality Analysis Improves the Accuracy of Next Generation Sequencing from Clinical Specimens
Functional DNA Quality Analysis Improves the Accuracy of Next Generation Sequencing from Clinical Specimens Overview We have developed a novel QC, the SuraSeq DNA Quantitative Functional Index (QFI ).
More informationACCEL-NGS 2S DNA LIBRARY KITS
ACCEL-NGS 2S DNA LIBRARY KITS Accel-NGS 2S DNA Library Kits produce high quality libraries with an all-inclusive, easy-to-use format. The kits contain all reagents necessary to build high complexity libraries
More informationwith drmid Dx for Illumina NGS systems
Performance Characteristics BRCA MASTR Dx with drmid Dx for Illumina NGS systems Manufacturer Multiplicom N.V. Galileïlaan 18 2845 Niel Belgium Revision date: July 27, 2017 Page 1 of 8 Table of Contents
More informationTotal genomic solutions for biobanks. Maximizing the value of your specimens.
Total genomic solutions for biobanks. Maximizing the value of your specimens. Unlock the true potential of your biological samples. Greater understanding. Increased value. Value-driven biobanking. Now
More informationTargeted Sequencing in the NBS Laboratory
Targeted Sequencing in the NBS Laboratory Christopher Greene, PhD Newborn Screening and Molecular Biology Branch Division of Laboratory Sciences Gene Sequencing in Public Health Newborn Screening February
More informationTarget Enrichment Strategies for Next Generation Sequencing
Target Enrichment Strategies for Next Generation Sequencing Anuj Gupta, PhD Agilent Technologies, New Delhi Genotypic Conference, Sept 2014 NGS Timeline Information burst Nearly 30,000 human genomes sequenced
More informationAgilent NGS Solutions : Addressing Today s Challenges
Agilent NGS Solutions : Addressing Today s Challenges Charmian Cher, Ph.D Director, Global Marketing Programs 1 10 years of Next-Gen Sequencing 2003 Completion of the Human Genome Project 2004 Pyrosequencing
More informationSYSTEMS. MassARRAY System. Uncompromised Molecular Testing. For Research Use Only. Not for use in diagnostic procedures.
SYSTEMS MassARRAY System Uncompromised Molecular Testing For Research Use Only. Not for use in diagnostic procedures. The MassARRAY System Challenges in Molecular Testing Are you tired of managing trade-offs
More informationOverview of techniques in Molecular Diagnostics ELKE BOONE 23 MAART 2017
Overview of techniques in Molecular Diagnostics ELKE BOONE 23 MAART 2017 Molecular Diagnostics Molecular Diagnostics? Molecular Diagnostics FISH or CISH techniques FISH or CISH techniques FISH or CISH
More informationMULTIPLEXING SIMULTANEOUSLY DETECT MULTIPLE TARGETS IN SINGLE ASSAYS. WhiteSci Whitehead Scientific (Pty) Ltd. Products. Expertise. Support.
MULTIPLEXING SIMULTANEOUSLY DETECT MULTIPLE TARGETS IN SINGLE ASSAYS WhiteSci Whitehead Scientific (Pty) Ltd Products. Expertise. Support. MULTIPLEXING Allowing researchers to gain more insight into precious
More informationAccessible answers. Targeted sequencing: accelerating and amplifying answers for oncology research
Accessible answers Targeted sequencing: accelerating and amplifying answers for oncology research Help advance precision medicine Accelerate results with Ion Torrent NGS Life without cancer. This is our
More informationHLA-Typing Strategies
HLA-Typing Strategies Cologne, 13.5.2017 Joannis Mytilineos MD, PhD Department of Transplantation Immunology Institute for Clinical Transfusion Medicine and Immunogenetics German Red Cross Blood Transfusion
More informationSurely Better Target Enrichment from Sample to Sequencer and Analysis
sureselect TARGET ENRIChment solutions Surely Better Target Enrichment from Sample to Sequencer and Analysis Agilent s market leading SureSelect platform provides a complete portfolio of catalog to custom
More informationDNA concentration and purity were initially measured by NanoDrop 2000 and verified on Qubit 2.0 Fluorometer.
DNA Preparation and QC Extraction DNA was extracted from whole blood or flash frozen post-mortem tissue using a DNA mini kit (QIAmp #51104 and QIAmp#51404, respectively) following the manufacturer s recommendations.
More informationGene Expression on the Fluidigm BioMark HD
Gene Expression on the Fluidigm BioMark HD Overview Introduction to Fluidigm James Miller Advantages of the technology Running a Fluidigm gene expression project Paul Lacaze Assay design, chemistry, experimental
More informationCAPTURE-BASED APPROACH FOR COMPREHENSIVE DETECTION OF IMPORTANT ALTERATIONS
CAPTURE-BASE APPROACH FOR COMPREHENSIVE ETECTION OF IMPORTANT ALTERATIONS SEQUENCE MUTATIONS MICROSATELLITE INSTABILITY AMPLIFICATIONS GENOMIC REARRANGEMENTS For Research Use Only. Not for iagnostic Purposes.
More informationSequencing technologies. Jose Blanca COMAV institute bioinf.comav.upv.es
Sequencing technologies Jose Blanca COMAV institute bioinf.comav.upv.es Outline Sequencing technologies: Sanger 2nd generation sequencing: 3er generation sequencing: 454 Illumina SOLiD Ion Torrent PacBio
More informationDeep Sequencing technologies
Deep Sequencing technologies Gabriela Salinas 30 October 2017 Transcriptome and Genome Analysis Laboratory http://www.uni-bc.gwdg.de/index.php?id=709 Microarray and Deep-Sequencing Core Facility University
More informationPerformance Characteristics drmid Dx for Illumina NGS systems
Performance Characteristics drmid Dx for Illumina NGS systems MANUFACTURER Multiplicom N.V. Galileïlaan 18 2845 Niel BELGIUM Revision date: August, 2017 Page 1 of 7 TABLE OF CONTENTS 1. TEST PRINCIPLE...
More informationSequencing technologies. Jose Blanca COMAV institute bioinf.comav.upv.es
Sequencing technologies Jose Blanca COMAV institute bioinf.comav.upv.es Outline Sequencing technologies: Sanger 2nd generation sequencing: 3er generation sequencing: 454 Illumina SOLiD Ion Torrent PacBio
More informationAssay Validation Services
Overview PierianDx s assay validation services bring clinical genomic tests to market more rapidly through experimental design, sample requirements, analytical pipeline optimization, and criteria tuning.
More informationDesign a super panel for comprehensive genetic testing
Design a super panel for comprehensive genetic testing Rong Chen, Ph.D. Assistant Professor Director of Clinical Genome Sequencing Dept. of Genetics and Genomic Sciences Institute for Genomics and Multiscale
More informationCancer Genetics Solutions
Cancer Genetics Solutions Cancer Genetics Solutions Pushing the Boundaries in Cancer Genetics Cancer is a formidable foe that presents significant challenges. The complexity of this disease can be daunting
More informationSUPPLEMENTARY MATERIAL AND METHODS
SUPPLEMENTARY MATERIAL AND METHODS Amplification of HEV ORF1, ORF2 and ORF3 genome regions Total RNA was extracted from 200 µl EDTA plasma using Cobas AmpliPrep total nucleic acid isolation kit (Roche,
More informationThe MiniSeq System. Explore the possibilities. Discover demonstrated NGS workflows for molecular biology applications.
The MiniSeq System. Explore the possibilities. Discover demonstrated NGS workflows for molecular biology applications. Let your work flow with Illumina NGS. The MiniSeq System delivers powerful and cost-effective
More informationHyperCap, an automatable workflow on the Agilent Bravo B
Automation Note February 2018 HyperCap, an automatable workflow on the Agilent Bravo B 1. OVERVIEW As the demand for next-generation sequencing (NGS) grows, laboratories must adapt to manage increased
More informationSingle Cell Genomics
Single Cell Genomics Application Cost Platform/Protoc ol Note Single cell 3 mrna-seq cell lysis/rt/library prep $2460/Sample 10X Genomics Chromium 500-10,000 cells/sample Single cell 5 V(D)J mrna-seq cell
More informationVariant detection analysis in the BRCA1/2 genes from Ion torrent PGM data
Variant detection analysis in the BRCA1/2 genes from Ion torrent PGM data Bruno Zeitouni Bionformatics department of the Institut Curie Inserm U900 Mines ParisTech Ion Torrent User Meeting 2012, October
More informationSureSelect XT HS. Target Enrichment
SureSelect XT HS Target Enrichment What Is It? SureSelect XT HS joins the SureSelect library preparation reagent family as Agilent s highest sensitivity hybrid capture-based library prep and target enrichment
More informationTitelstijl van model bewerken
Generate Titelstijl van and verify model your bewerken data Solutions for all your genetic analysis needs Sanger Sequencing Microarray technology QuantStudio real-time and digital PCR Ion Torrent NGS systems
More informationQIAGEN s NGS Solutions for Biomarkers NGS & Bioinformatics team QIAGEN (Suzhou) Translational Medicine Co.,Ltd
QIAGEN s NGS Solutions for Biomarkers NGS & Bioinformatics team QIAGEN (Suzhou) Translational Medicine Co.,Ltd 1 Our current NGS & Bioinformatics Platform 2 Our NGS workflow and applications 3 QIAGEN s
More informationSequencing technologies. Jose Blanca COMAV institute bioinf.comav.upv.es
Sequencing technologies Jose Blanca COMAV institute bioinf.comav.upv.es Outline Sequencing technologies: Sanger 2nd generation sequencing: 3er generation sequencing: 454 Illumina SOLiD Ion Torrent PacBio
More informationA Genomics (R)evolution: Harnessing the Power of Single Cells
A Genomics (R)evolution: Harnessing the Power of Single Cells Fundamental Question #1 If Transcriptional Heterogeneity ( Noise ) is so great in single cells What s the Point? Single Cells = True Biology
More informationVALIDATION OF HLA TYPING BY NGS
VALIDATION OF HLA TYPING BY NGS Eric T. Weimer, Ph.D., D(ABMLI) Assistant Professor, Pathology and Laboratory Medicine Associate Director, Clinical Flow Cytometry, HLA, and Immunology Laboratories CONFLICT
More informationIllumina Genome Analyzer. Progenika Experience. - Susana Catarino -
Illumina Genome Analyzer Progenika Experience - Susana Catarino - Who are we? 2000 PROGENIKA BIOPHARMA Development, production and commercialization of new genomic tools for diagnosis, prognosis and drug-response
More informationTargeted Sequencing Using Droplet-Based Microfluidics. Keith Brown Director, Sales
Targeted Sequencing Using Droplet-Based Microfluidics Keith Brown Director, Sales brownk@raindancetech.com Who we are: is a Provider of Microdroplet-based Solutions The Company s RainStorm TM Technology
More informationImplementation of Ion AmpliSeq in molecular diagnostics
Implementation of Ion AmpliSeq in molecular diagnostics The Rotterdam Experience Ronald van Marion Deelnemersbijeenkomst SKML sectie Pathologie Amersfoort, 26 mei 2016 Molecular Diagnostics in Rotterdam
More informationSNP GENOTYPING WITH iplex REAGENTS AND THE MASSARRAY SYSTEM
SNP GENOTYPING Accurate, sensitive, flexible MassARRAY System SNP GENOTYPING WITH iplex REAGENTS AND THE MASSARRAY SYSTEM Biomarker validation Routine genetic testing Somatic mutation profiling Up to 400
More informationScaling Up NGS Sample Preparation: Automation and Lab Preparation. Alicia Burt Sr. Product Manager
Scaling Up NGS Sample Preparation: Automation and Lab Preparation Alicia Burt Sr. Product Manager Alicia_burt@agilent.com Steve Lappin Application Scientist AGILENT AUTOMATED NGS SAMPLE PREPARATION Alicia
More informationSNP GENOTYPING WITH iplex REAGENTS AND THE MASSARRAY SYSTEM
SNP GENOTYPING Accurate, sensitive, flexible MassARRAY System SNP GENOTYPING WITH iplex REAGENTS AND THE MASSARRAY SYSTEM Biomarker validation Routine genetic testing Somatic mutation profiling Up to 400
More informationHigh Cross-Platform Genotyping Concordance of Axiom High-Density Microarrays and Eureka Low-Density Targeted NGS Assays
High Cross-Platform Genotyping Concordance of Axiom High-Density Microarrays and Eureka Low-Density Targeted NGS Assays Ali Pirani and Mohini A Patil ISAG July 2017 The world leader in serving science
More informationSYSTEMS. MassARRAY System. Uncompromised Molecular Testing. For Research Use Only. Not for use in diagnostic procedures.
SYSTEMS MassARRAY System Uncompromised Molecular Testing For Research Use Only. Not for use in diagnostic procedures. The MassARRAY System Challenges in Molecular Testing Are you tired of managing trade-offs
More informationNext Generation Sequencing Technologies
Next Generation Sequencing Technologies What is first generation? Sanger Sequencing DNA Polymerase Base-adding reaction +H + http://chemwiki.ucdavis.edu/organic_chemistry/organic_chemistry_with_a_biological_emphasis/chapter_10%3a_phosphoryl_transfer_reactions/section_10.4%3a_phosphate_diesters
More informationDigital DNA/RNA sequencing enables highly accurate and sensitive biomarker detection and quantification
Digital DNA/RNA sequencing enables highly accurate and sensitive biomarker detection and quantification Erwin Chen ( 陳立德 ) Technical Product Specialist QIAGEN Taiwan Precision medicine: Right drug, right
More informationWelcome to the NGS webinar series
Welcome to the NGS webinar series Webinar 1 NGS: Introduction to technology, and applications NGS Technology Webinar 2 Targeted NGS for Cancer Research NGS in cancer Webinar 3 NGS: Data analysis for genetic
More informationThe New Genome Analyzer IIx Delivering more data, faster, and easier than ever before. Jeremy Preston, PhD Marketing Manager, Sequencing
The New Genome Analyzer IIx Delivering more data, faster, and easier than ever before Jeremy Preston, PhD Marketing Manager, Sequencing Illumina Genome Analyzer: a Paradigm Shift 2000x gain in efficiency
More informationControlling Chaos in Oncology Testing
HORIZON DISCOVERY Controlling Chaos in Oncology Testing 16 th March 2016 Brian Burke PhD Disclaimer This Presentation does not constitute or form any part of an offer to sell, or invitation to purchase
More informationAutomation of the IDT xgen Lockdown Panels on the Sciclone G3 NGS Workstation
A PPLI C A TION NOT E NGS Library Preparation Sciclone G3 NGSx Workstation Automation of the IDT xgen Lockdown Panels on the Sciclone G3 NGS Workstation Introduction Integrated DNA Technologies (IDT) xgen
More informationMatthew Tinning Australian Genome Research Facility. July 2012
Next-Generation Sequencing: an overview of technologies and applications Matthew Tinning Australian Genome Research Facility July 2012 History of Sequencing Where have we been? 1869 Discovery of DNA 1909
More informationAxygen AxyPrep Magnetic Bead Purification Kits. A Corning Brand
Axygen AxyPrep Magnetic Bead Purification Kits A Corning Brand D Sample Prep Solutions for Genomics Obtaining Pure Nucleic Acids from Your Sample is Precious The purification of high quality DNA is the
More informationUnique, dual-matched adapters mitigate index hopping between NGS samples. Kristina Giorda, PhD
Unique, dual-matched adapters mitigate index hopping between NGS samples Kristina Giorda, PhD 1 Outline NGS workflow and cross-talk Sources of sample cross-talk and mitigation strategies Adapter recommendations
More informationTBRT Meeting April 2018 Scott Weigel Sales Director
TBRT Meeting April 2018 Scott Weigel Sales Director About Us AgriPlex Genomics was formed in 2014 with the goal of creating a platform for targeted sequencing and genotyping in large numbers of samples.
More informationLATE-PCR. Linear-After-The-Exponential
LATE-PCR Linear-After-The-Exponential A Patented Invention of the Laboratory of Human Genetics and Reproductive Biology Lab. Director: Lawrence J. Wangh, Ph.D. Department of Biology, Brandeis University,
More informationscgem Workflow Experimental Design Single cell DNA methylation primer design
scgem Workflow Experimental Design Single cell DNA methylation primer design The scgem DNA methylation assay uses qpcr to measure digestion of target loci by the methylation sensitive restriction endonuclease
More informationIllumina s Suite of Targeted Resequencing Solutions
Illumina s Suite of Targeted Resequencing Solutions Colin Baron Sr. Product Manager Sequencing Applications 2011 Illumina, Inc. All rights reserved. Illumina, illuminadx, Solexa, Making Sense Out of Life,
More informationSingle Cell Genomics
Single Cell Genomics Application Cost Platform/Protocol Note 3 mrna-seq Cell capture/rt/library prep $1,990/Sample 10x Genomics Chromium 500-10,000 cells/sample 5 V(D)J + mrna Cell capture/rt/library prep
More informationYour Best Data: Teaming QIAGEN Chemistry & Bioinformatics to Drive Samples to Insight
Your Best Data: Teaming QIAGEN Chemistry & Bioinformatics to Drive Samples to Insight Aysel Heckel Director Clinical Solutions Sales Dr. Anne Arens Field Application Scientist Course on Variant Detection
More informationDNBseq TM SERVICE OVERVIEW Plant and Animal Whole Genome Re-Sequencing
TM SERVICE OVERVIEW Plant and Animal Whole Genome Re-Sequencing Plant and animal whole genome re-sequencing (WGRS) involves sequencing the entire genome of a plant or animal and comparing the sequence
More informationUnderstanding the science and technology of whole genome sequencing
Understanding the science and technology of whole genome sequencing Dag Undlien Department of Medical Genetics Oslo University Hospital University of Oslo and The Norwegian Sequencing Centre d.e.undlien@medisin.uio.no
More informationRoche Sequencing Solutions CHANGING SCIENCE CHANGING LIVES
Roche Sequencing Solutions CHANGING SCIENCE CHANGING LIVES Roche Sequencing Solutions Roche is helping to shape the future of personalized medicine by integrating best-in-class sequencing technologies
More informationSWIFT 2S TURBO DNA LIBRARY KITS
DT SHEET swiftbiosci.com SWIT 2S TURBO DN LIBRRY KITS The Easiest NGS Workflow for Routine Sequencing Highlights Simple, fast, and reliable Minimal steps and hands-on time with consistent fragmentation
More informationNext-generation sequencing Technology Overview
Next-generation sequencing Technology Overview UQ Winter School 2018 Christopher Noune, PhD AGRF Melbourne christopher.noune@agrf.org.au What is NGS? Ion Torrent PGM (Thermo-Fisher) MiSeq (Illumina) High-Throughput
More informationIntroducing combined CGH and SNP arrays for cancer characterisation and a unique next-generation sequencing service. Dr. Ruth Burton Product Manager
Introducing combined CGH and SNP arrays for cancer characterisation and a unique next-generation sequencing service Dr. Ruth Burton Product Manager Today s agenda Introduction CytoSure arrays and analysis
More informationGENOMICS WORKFLOW SOLUTIONS THAT GO WHERE THE SCIENCE LEADS. Genomics Solutions Portfolio
GENOMICS WORKFLOW SOLUTIONS THAT GO WHERE THE SCIENCE LEADS Genomics Solutions Portfolio WORKFLOW SOLUTIONS FROM EXTRACTION TO ANALYSIS Application-based answers for every step of your workflow Scientists
More informationNEXT GENERATION SEQUENCING Whole Gene Sequencing
NEXT GENERATION SEQUENCING Whole Gene Sequencing Ingrid Faé Educational Session 3: Next generation sequencing Stockholm, Friday, June 27 th 2014 Department for Blood Group Serology and Transfusion Medicine
More informationDried Blood Spot DNA Extraction Guidelines to Ensure Robust Performance in NBS Molecular Assays
Dried Blood Spot DNA Extraction Guidelines to Ensure Robust Performance in NBS Molecular Assays Suzanne K. Cordovado, Ph.D. Molecular Quality Improvement Program Newborn Screening and Molecular Biology
More information15:30-16:15 Sean Prosser New Developments for Natural History Collection Barcoding. DNA Barcoding Natural History Collections
15:30-16:15 Sean Prosser New Developments for Natural History Collection Barcoding DNA Barcoding Natural History Collections Recap Barcoding Museum Specimens Age Target Amplicons Final Sequence Length
More informationPerformance of the Newly Developed Non-Invasive Prenatal Multi- Gene Sequencing Screen
1 // Performance of the Newly Developed Non-Invasive Prenatal Multi- Gene Sequencing Screen ABSTRACT Here we describe the analytical performance of the newly developed non-invasive prenatal multi-gene
More informationIMGM Laboratories GmbH. Sales Manager
IMGM Laboratories GmbH Dr. Jennifer K. Kuhn Sales Manager About IMGM Laboratories IMGM Laboratories was founded in 2001 IMGM operates as professional provider of advanced genomic services from research
More informationDeep Sequencing QC: An Component Study of the FDA-led Sequencing Quality Control Project Phase 2 (SEQC2)
Deep Sequencing QC: An Component Study of the FDA-led Sequencing Quality Control Project Phase 2 (SEQC2) Joshua Xu, Ph.D. Division of Bioinformatics and Biostatistics, NCTR/FDA zhihua.xu@fda.hhs.gov World
More informationEnterprise Interest I am an employee of ThermoFisher Scientific.
Enterprise Interest I am an employee of ThermoFisher Scientific. Developing a multiplex next-generation sequencing assay to study highly clonal tumor samples Dumitru Brinza, Ph.D Clinical Next-Generation
More informationComplementary Technologies for Precision Genetic Analysis
Complementary NGS, CGH and Workflow Featured Publication Zhu, J. et al. Duplication of C7orf58, WNT16 and FAM3C in an obese female with a t(7;22)(q32.1;q11.2) chromosomal translocation and clinical features
More informationNext Generation Sequencing in Genetic Diagnostics Alan Pittman, PhD
Next Generation Sequencing 1 Institute of Neurology Faculty of Brain Sciences University College London Outline of lecture Sanger sequencing Next generation sequencing technologies Target enrichment Analysis
More informationSureSelect Target Enrichment for the Ion Proton TM Next Generation Sequencing System
SureSelect Target Enrichment for the Ion Proton TM Next Generation Sequencing System Demonstrated performance you can count on Christina Chiu Product Manager, SureSelect Kyeong Jeong Ph.D. R&D Scientist
More informationGENOMICS WORKFLOW SOLUTIONS THAT GO WHERE THE SCIENCE LEADS. Genomics Solutions Portfolio
GENOMICS WORKFLOW SOLUTIONS THAT GO WHERE THE SCIENCE LEADS Genomics Solutions Portfolio WORKFLOW SOLUTIONS FROM EXTRACTION TO ANALYSIS Application-based answers for every step of your workflow Scientists
More informationFUTURE PROSPECTS IN MOLECULAR INFECTIOUS DISEASES DIAGNOSIS
FUTURE PROSPECTS IN MOLECULAR INFECTIOUS DISEASES DIAGNOSIS Richard L. Hodinka, Ph.D. University of South Carolina School of Medicine Greenville Greenville Health System, Greenville, SC hodinka@greenvillemed.sc.edu
More informationNext-generation sequencing technologies
Next-generation sequencing technologies NGS applications Illumina sequencing workflow Overview Sequencing by ligation Short-read NGS Sequencing by synthesis Illumina NGS Single-molecule approach Long-read
More informationFast, accurate sequencing starts here. Accelerate your NGS success with automated sample prep
Fast, accurate sequencing starts here Accelerate your NGS success with automated sample prep Comprehensive, scalable NGS automation solutions The most complete and versatile system for automated NGS sample
More informationDevelopment and characterization of a high throughput targeted genotypingby-sequencing solution for agricultural genetic applications
Development and characterization of a high throughput targeted genotypingby-sequencing solution for agricultural genetic applications Michelle Swimley 1, Angela Burrell 1, Prasad Siddavatam 1, Chris Willis
More informationDevelopment of quantitative targeted RNA-seq methodology for use in differential gene expression
Development of quantitative targeted RNA-seq methodology for use in differential gene expression Dr. Jens Winter, Market Development Group Biological Biological Research Content EMEA QIAGEN Universal Workflows
More informationG E N OM I C S S E RV I C ES
GENOMICS SERVICES ABOUT T H E N E W YOR K G E NOM E C E N T E R NYGC is an independent non-profit implementing advanced genomic research to improve diagnosis and treatment of serious diseases. Through
More informationSEQUENCING. M Ataei, PhD. Feb 2016
CLINICAL NEXT GENERATION SEQUENCING M Ataei, PhD Tehran Medical Genetics Laboratory Feb 2016 Overview 2 Background NGS in non-invasive prenatal diagnosis (NIPD) 3 Background Background 4 In the 1970s,
More informationHow One NGS Core Lab Reduced Sequencing Costs with a Novel Library Normalization Kit
How One NGS Core Lab Reduced Sequencing Costs with a Novel Library Normalization Kit GenomeWebinar March 27, 2019 Julia Karow GenomeWeb Tony Brooks UCL Genomics Mida Pezeshkian Swift Biosciences GenomeWebinar
More information