The Digital Biology TM. Company. Targeted DNA Sequencing Solutions It Pays To Be On Target

Save this PDF as:
 WORD  PNG  TXT  JPG

Size: px
Start display at page:

Download "The Digital Biology TM. Company. Targeted DNA Sequencing Solutions It Pays To Be On Target"

Transcription

1 The Digital Biology TM Company Targeted DNA Sequencing Solutions It Pays To Be On Target

2 Proven Platform RainDance TM Technologies is pioneering digital biology and powering ground-breaking human genetics and cancer research with our novel droplet-based technologies. The company s core RainStorm TM technology generates millions of discrete droplets that can encapsulate a single molecule, cell or reaction. The RainDance Targeted Sequencing System enables customers to apply the familiar gold-standard technique more cost-effectively and at higher-throughput using any next-generation sequencer. The Sequencing Dilemma A major challenge facing biomedical research today is identifying genetic variants underlying specific phenotypes found in complex diseases. Targeted sequencing is currently the most promising and feasible path toward reliably uncovering common and rare variation in the human genome, both in terms of clinical feasibility and cost, when compared with low-coverage whole-genome, or even whole-exome sequencing. Whole Genome Targeted Sequencing Requirements for Translational Research Target selection has a significant impact on downstream Next-Generation Sequencing (NGS). As NGS plays a more prominent role in translational research, key attributes such as automation, specificity, and sensitivity will have a critical effect on sequencing quality and costs. RainDance offers all of these attributes and ensures the highest quality and lowest overall cost per sample. DNA Sample 3 billion bases Low coverage and depth Complex / costly informatics Targeted DNA Sequencing RainDance Target Selection Higher resolution Deeper coverage No bias Streamlined informatics Targeted DNA sequencing provides greater depth of sequence coverage for the region of interest and enables detection of rare mutations that are not otherwise achieved with whole-genome sequencing. This focused approach reduces sequencing and informatics costs since only a fraction of the genome is interrogated. Streamlined workflow Automation Assay content Cost effective Any Next-Gen Sequencer Coverage uniformity Specificity Target coverage Sensitivity

3 TM The RainDance Solution RainDance offers a complete Targeted Sequencing System, including automated instrumentation, a sophisticated primer design pipeline and high-value consumables and reagents. Automated Instrumentation Application Specific Primer Panels Reagents and Consumables ThunderStorm TM System Fully automated low-medium and high-throughput instrumentation Custom and defined content for genetic disease, cancer and medical genetics research Smart consumables manufactured by Sony DADC Technology Benefits Millions of single molecule droplet reactions per sample Eliminate the need for multiplex with >2 million single-plex reactions per sample Optimize sequencing capacity and uniformity Greater breadth and depth of coverage Interrogate challenging regions of the genome, including repetitive sequences, splice sites, regulatory regions, and areas of high homology Differentiate known pseudogenes Detect rare mutations in as little as 1% of a heterogeneous tumor Sophisticated primer design pipeline Target any region of the genome using up to 20,000 amplicons Achieve design coverage of >99% of the target region of interest* Tailed primers eliminate library construction Significantly reduce sample processing time and sample prep costs Increase specificity to >90% Fully automated sample processing: 1-96 samples per run Streamline workflow with minimal hands-on time Reproducible sample to sample sequencing results Proven defined-content panels for: ADME, Autism, HLA, Oncology, and X-Chromosome Utilize comprehensive research screening panels developed in collaboration with industry leaders *Average first pass base coverage of >99%. Number based on >800 primer designs.

4 TM The RainDance Advantage The genomics field requires a targeted sequencing method that delivers high performance, is practical for any lab, and is cost-effective. While technologies based on standard polymerase chain reaction () and multiplexed array-based hybridization can be used for sequence enrichment, they involve tradeoffs associated with coverage, quality and cost compromises. The RainDance platform delivers the required performance with the lowest overall cost per sample. Hybridization Fully automated target capture Eliminate library construction No bias High target uniformity Ability to target all genomic regions Effective capture range Sufficient amplicon targets per sample Up to 20,000 N/A The RainDance system is an automated and high-throughput solution that enables us to generate reproducible sequence data with increased accuracy and greater coverage uniformity. Aly Karsan, M.D. Medical Director Centre for Clinical Diagnostic Genomics BC Cancer Agency

5 Be on Target with Single Molecule How It Works The RainDance solutions leverage the company s innovative picodropletbased platform to generate millions of single-plex reactions. A genomic DNA sample is combined with a unique primer droplet from a primer panel on a smart consumable microfluidic chip. In less than 1 hour, up to 2 million picoliter-size droplets per sample are produced each of which represents a single molecule reaction. The combined droplets are collected in a single tube and thermal cycled and sequenced on nextgeneration platforms. TM Primer Pair 1 Primer Pair 2 Primer Pair 3 Merge Primer and sample droplets Why It is Better Single molecule droplet yields better sequence uniformity and more complete design coverage of genomic regions compared to alternative methods (see figure below). Each droplet contains an equal amount of genomic DNA, primer pair and master mix. This creates a highly uniform product and eliminates bias found in traditional multiplexed reactions. Additionally, each primer pair is designed using RainDance s proprietary in silico primer design that achieves design coverage greater than 99% to the target region of interest.* This level of specificity provides the ability to target repetitive and homologous regions of the genome that cannot be targeted by hybridization methods. Reaction 1 Reaction 2 Reaction 3 Inside of RainDance ThunderStorm HeatWave TS chip, droplets containing individual primer pairs and individual molecules of genomic DNA are merged to create millions of single molecule droplet reactions per run. Two samples are run simultaneously on each HeatWave TS chip. TM TM *Average first pass base coverage of >99%. Number based on >800 primer panel designs. Genomic Coverage: RainDance: 99% Hybridization: 68% Hybridization RainDance Genotype Concordance: Homozygous SNPs: 99.8% Heterozygous SNPs: 98.6% The figure above shows GWAS follow up samples from Chromosome 9 that were sequenced by the Broad Institute. The samples were prepared with hybridization-based capture methods (shown in red) and with RainDance s single molecule platform (shown in blue). The cream boxes highlight entire exonic regions that were missed by the hybridization method but captured by RainDance s technology. Overall, RainDance captured 99.7% of the target region whereas the hybridization method captured 68%. Gnirke, et. al. Nat. Biotechnol Feb; 27 (2): 182-9

6 It Pays with Significant Time Savings DirectSeqTM Workflow RainDance s workflow provides a significant savings to labs with time and personnel constraints: Step 1: Load Step 2: Go Reduce hands-on manual sample preparation DEFINE RUN THEN START RUN Provide quick turn-around times so samples get to the sequencer faster Free up resources for other high level tasks Load DNA samples, chips, reagents and primer panels <10 minutes hands-on time Define run parameters and press START RUN <10 minutes hands-on time vs. Alternative Methodologies General Hybridization Workflow RainDance Workflow General Workflow DNA Extraction Shear Genomic DNA DNA Extraction Shear Genomic DNA OR FFPE DNA Extraction Shear Genomic DNA OR FFPE A-Tailing Adapter Ligation Quantification 500ng Aliquot Blocker Aliquot Bait & Hybridization buffer aliquot Combination Step Library Hybridization Capture Quantification Hybridization on Oligo Pool Removal of Unbound Oligos Extension-Ligation of Bound Oligos Wash 1 Wash 2 Total Time: RainDance Merge (single molecule) Total Time: Library Normalization Total Time: Elution 72 hours Quantification 8-12 hours q 8 hours Neutralization Capture Library Hands On Time: Secondary Quantification Hands On Time: Library Pooling Blocker Aliquot Hands On Time: Quantification and Index 14 hours 35 minutes 4-6 hours Combination Sequencing Target Region: Up to 50Mb Sequencing Target Region: Up to 10Mb Sequencing Target Region: Up to 96Kb RainDance s DirectSeq workflow replaces multiple steps required by other approaches and requires only 35 minutes of hands on time vs. 14 hours for hybridization and 4-6 hours for other methods. Total time shown is an example for up to a 12 sample run.

7 It Pays with Total Sample Cost Savings Multiple factors play into the total cost per sample for next-generation sequencing. While sample preparation costs represent the upfront out-of-pocket expense, the right method can provide significant time and cost savings in the downstream sequencing and data analysis as long as they positively impact the following factors: Factor How It Reduces Overall Sample Costs Primer Design Coverage Specificity Uniformity Data Analysis Proper primer design eliminates off-target and excess sequencing time and costs More comprehensive coverage reduces the additional Sanger sequencing validation High specificity maximizes on-target sequencing throughput and reduces downstream sequencing costs Uniform sequence coverage optimizes coverage and reduces overall costs High on-target sequence reads reduce the amount of time needed to search against genomic databases Single Molecule Sequencing Results Scale chr3: CCDS MLH1 MLH1 20 kb Consensus CDS RefSeq Genes RainDance Primer Design 10 Illumina Sequence Coverage 2 10 SOLiD Sequence Coverage 0 The RainDance ONCOSeq TM Panel delivers superior design coverage, sequence uniformity and specificity for the gene MLH1. RainDance s ability to target regions of interest with this level of coverage, uniformity and specificity maximizes on-target sequencing and reduces overall costs. The RainDance system allows us to screen large numbers of samples with high coverage and specificity, all at a fraction of the overall project cost compared to former methods. Anja Kammesheidt, Ph.D. Chief Scientific Officer Ambry Genetics

8 Choose a defined or customized content panel A Variety of Applications GWAS follow-up Rare variant detection Genetic screening Target methylation Deep sequencing tumor samples The RainDance panels enable us to apply nextgeneration sequencing more routinely to genetic testing for mutations in a number of genes associated with single disorders. Madhuri Hegde, Ph.D., FACMG Senior Director of Emory Genetics Laboratory Associate Professor in the Department of Human Genetics Emory University School of Medicine Defined Content Panels ADMESeq TM Core Panel ADMESeq TM Panel ASDSeq TM Panel HLASeq TM Panel Cancer HotSpot Panel OncoSeq TM Panel XSeq TM Panel 36 common pharmacokinetic and pharmacology genes 242 known pharmacokinetic and pharmacology genes 62 individual autosomal and X-linked genes associated with Autism Only comprehensive panel targeting entire HLA super locus (3.8 Mb region) 54 genes and >13,000 COSMIC ID s 142 oncology genes Comprehensive screening of >800 genes associated with X-linked inherited disorders Custom Content Panels Creating custom content panels could not be easier. Start with a new design or add to an existing Defined Content Panel. 1. Provide your genes or genomic coordinates of interest to RainDance s expert application team 2. Receive quality controlled primer panels and let the sequencing begin 3. Add or remove additional regions of interest after initial primer design and validation RainDance Technologies, Inc. 44 Hartwell Avenue Lexington, MA 02421, U.S.A. Phone: Phone, toll-free: Fax: RainDance Technologies, the RainDance Technologies logo, RainStorm, ThunderStorm, HeatWave, ADMESeq, ASDSeq, HLASeq, ONCOSeq, and XSeq are trademarks of RainDance Technologies, Inc. All other brands may be trademarks of their respective holders RainDance Technologies, Inc. All rights reserved. Printed in USA. LCN: Rev. A The RainDance products are for Research Use Only. Not for use in diagnostic procedures.

Advances in RainDance Sequence Enrichment Technology and Applications in Cancer Research. March 17, 2011 Rendez-Vous Séquençage

Advances in RainDance Sequence Enrichment Technology and Applications in Cancer Research. March 17, 2011 Rendez-Vous Séquençage Advances in RainDance Sequence Enrichment Technology and Applications in Cancer Research March 17, 2011 Rendez-Vous Séquençage Presentation Overview Core Technology Review Sequence Enrichment Application

More information

SEQUENCING. From Sample to Sequence-Ready

SEQUENCING. From Sample to Sequence-Ready SEQUENCING From Sample to Sequence-Ready ACCESS ARRAY SYSTEM HIGH-QUALITY LIBRARIES, NOT ONCE, BUT EVERY TIME The highest-quality amplicons more sensitive, accurate, and specific Full support for all major

More information

TruSeq Custom Amplicon v1.5

TruSeq Custom Amplicon v1.5 Data Sheet: Targeted Resequencing TruSeq Custom Amplicon v1.5 A new and improved amplicon sequencing solution for interrogating custom regions of interest. Highlights Figure 1: TruSeq Custom Amplicon Workflow

More information

Sequencing power for every scale. Systems for every application, for every lab.

Sequencing power for every scale. Systems for every application, for every lab. Sequencing power for every scale. Systems for every application, for every lab. Proven sequencing technology. Accelerate your research. Achieve your next breakthrough. What started as novel Illumina chemistry,

More information

Targeted. sequencing solutions. Accurate, scalable, fast TARGETED

Targeted. sequencing solutions. Accurate, scalable, fast TARGETED Targeted TARGETED Sequencing sequencing solutions Accurate, scalable, fast Sequencing for every lab, every budget, every application Ion Torrent semiconductor sequencing Ion Torrent technology has pioneered

More information

Single-Cell Whole Genome Sequencing on the C1 System: a Performance Evaluation

Single-Cell Whole Genome Sequencing on the C1 System: a Performance Evaluation PN 100-9879 A1 TECHNICAL NOTE Single-Cell Whole Genome Sequencing on the C1 System: a Performance Evaluation Introduction Cancer is a dynamic evolutionary process of which intratumor genetic and phenotypic

More information

SOLUTIONS FOR NEXT-GENERATION SEQUENCING

SOLUTIONS FOR NEXT-GENERATION SEQUENCING SOLUTIONS FOR NEXT-GENERATION SEQUENCING GENOMICS CELL BIOLOGY PROTEOMICS AUTOMATION enabling next-generation research From Samples To Publication, Millennium Science Enables Your Next-Gen Sequencing Workflow

More information

Single-Cell DNA Sequencing with the C 1. Single-Cell Auto Prep System. Reveal hidden populations and genetic diversity within complex samples

Single-Cell DNA Sequencing with the C 1. Single-Cell Auto Prep System. Reveal hidden populations and genetic diversity within complex samples DATA Sheet Single-Cell DNA Sequencing with the C 1 Single-Cell Auto Prep System Reveal hidden populations and genetic diversity within complex samples Single-cell sensitivity Discover and detect SNPs,

More information

Fishing for variants in the deep end of the gene pool: OGT s custom bait designs

Fishing for variants in the deep end of the gene pool: OGT s custom bait designs Fishing for variants in the deep end of the gene pool: OGT s custom bait designs Jolyon Holdstock, Simon Hughes and Daniel Swan Abstract Oxford Gene Technology (OGT) has extensive expertise in probe design

More information

Ion Torrent Systems Research Applications and Developments for PGM and Proton Sequencers

Ion Torrent Systems Research Applications and Developments for PGM and Proton Sequencers Ion Torrent Systems Research Applications and Developments for PGM and Proton Sequencers Mathieu Larivière Life Technologies Field Application Scientist Next Generation Sequencing 1 Introduction to PGM

More information

G E N OM I C S S E RV I C ES

G E N OM I C S S E RV I C ES GENOMICS SERVICES THE NEW YORK GENOME CENTER NYGC is an independent non-profit implementing advanced genomic research to improve diagnosis and treatment of serious diseases. capabilities. N E X T- G E

More information

The MiniSeq System. Explore the possibilities.

The MiniSeq System. Explore the possibilities. 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 information

Oncology Insights Enabled by Knowledge Base-Guided Panel Design and the Seamless Workflow of the GeneReader NGS System

Oncology Insights Enabled by Knowledge Base-Guided Panel Design and the Seamless Workflow of the GeneReader NGS System White Paper Oncology Insights Enabled by Knowledge Base-Guided Panel Design and the Seamless Workflow of the GeneReader NGS System Abstract: This paper describes QIAGEN s philosophy and process for developing

More information

Overview of Next Generation Sequencing platform technologies

Overview of Next Generation Sequencing platform technologies Overview of Next Generation Sequencing platform technologies Dr. Bernd Timmermann Next Generation Sequencing Core Facility Max Planck Institute for Molecular Genetics Berlin, Germany Outline 1. Technologies

More information

Consistent Assay Performance Across Universal Arrays and Scanners

Consistent Assay Performance Across Universal Arrays and Scanners Technical Note: Illumina Systems and Software Consistent Assay Performance Across Universal Arrays and Scanners There are multiple Universal Array and scanner options for running Illumina DASL and GoldenGate

More information

Go where the biology takes you. Genome Analyzer IIx Genome Analyzer IIe

Go where the biology takes you. Genome Analyzer IIx Genome Analyzer IIe Go where the biology takes you. Genome Analyzer IIx Genome Analyzer IIe Go where the biology takes you. To published results faster With proven scalability To the forefront of discovery To limitless applications

More information

Delivering the power of the world s most successful genomics platform

Delivering the power of the world s most successful genomics platform Delivering the power of the world s most successful genomics platform NextCODE Health is bringing the full power of the world s largest and most successful genomics platform to everyday clinical care NextCODE

More information

Leading Genomics. Diagnostic. Discove. Collab. harma. Shanghai Cambridge, MA Reykjavik

Leading Genomics. Diagnostic. Discove. Collab. harma. Shanghai Cambridge, MA Reykjavik Leading Genomics Diagnostic harma Discove Collab Shanghai Cambridge, MA Reykjavik Global leadership for using the genome to create better medicine WuXi NextCODE provides a uniquely proven and integrated

More information

PreciseTM Whitepaper

PreciseTM Whitepaper Precise TM Whitepaper Introduction LIMITATIONS OF EXISTING RNA-SEQ METHODS Correctly designed gene expression studies require large numbers of samples, accurate results and low analysis costs. Analysis

More information

Automated DNA sequencing 20/12/2009. Next Generation Sequencing

Automated DNA sequencing 20/12/2009. Next Generation Sequencing DNA sequencing the beginnings Ghent University (Fiers et al) pioneers sequencing first complete gene (1972) first complete genome (1976) Next Generation Sequencing Fred Sanger develops dideoxy sequencing

More information

Introduction To Epigenetic Regulation: How Can The Epigenomics Core Services Help Your Research? Maria (Ken) Figueroa, M.D. Core Scientific Director

Introduction To Epigenetic Regulation: How Can The Epigenomics Core Services Help Your Research? Maria (Ken) Figueroa, M.D. Core Scientific Director Introduction To Epigenetic Regulation: How Can The Epigenomics Core Services Help Your Research? Maria (Ken) Figueroa, M.D. Core Scientific Director Gene expression depends upon multiple factors Gene Transcription

More information

Genetic diagnostics the gateway to personalized medicine

Genetic diagnostics the gateway to personalized medicine Micronova 20.11.2012 Genetic diagnostics the gateway to personalized medicine Kristiina Assoc. professor, Director of Genetic Department HUSLAB, Helsinki University Central Hospital The Human Genome Packed

More information

KAPA HYPER PLUS: A single-tube NGS library prep workflow integrating enzymatic fragmentation results in high yields and low sequencing bias.

KAPA HYPER PLUS: A single-tube NGS library prep workflow integrating enzymatic fragmentation results in high yields and low sequencing bias. Poster Note As presented at AGBT 215, Marco Island, FL KAPA HYPER PLUS: A single-tube NGS library prep workflow integrating enzymatic fragmentation results in high yields and low sequencing bias. Authors

More information

Single Nucleotide Polymorphisms (SNPs)

Single Nucleotide Polymorphisms (SNPs) Single Nucleotide Polymorphisms (SNPs) Additional Markers 13 core STR loci Obtain further information from additional markers: Y STRs Separating male samples Mitochondrial DNA Working with extremely degraded

More information

ONE WORKFLOW. ONE PARTNER. ACTIONABLE INSIGHTS. Sample to Insight

ONE WORKFLOW. ONE PARTNER. ACTIONABLE INSIGHTS. Sample to Insight ONE WORKFLOW. ONE PARTNER. ACTIONABLE INSIGHTS. Sample to Insight (NGS) Nucleic Acid More actionable data and insights in one go. More confidence at one glance. A small step for you, a giant leap for your

More information

Application Guide... 2

Application Guide... 2 Protocol for GenomePlex Whole Genome Amplification from Formalin-Fixed Parrafin-Embedded (FFPE) tissue Application Guide... 2 I. Description... 2 II. Product Components... 2 III. Materials to be Supplied

More information

Corporate Medical Policy

Corporate Medical Policy Corporate Medical Policy Whole Exome and Whole Genome Sequencing for Diagnosis of Genetic Disorders File Name: Origination: Last CAP Review: Next CAP Review: Last Review: whole_exome_and_whole_exome_sequencing_for_diagnosis_of_genetic_disorders

More information

Bioruptor NGS: Unbiased DNA shearing for Next-Generation Sequencing

Bioruptor NGS: Unbiased DNA shearing for Next-Generation Sequencing STGAAC STGAACT GTGCACT GTGAACT STGAAC STGAACT GTGCACT GTGAACT STGAAC STGAAC GTGCAC GTGAAC Wouter Coppieters Head of the genomics core facility GIGA center, University of Liège Bioruptor NGS: Unbiased DNA

More information

Automated Library Preparation for Next-Generation Sequencing

Automated Library Preparation for Next-Generation Sequencing Buyer s Guide: Automated Library Preparation for Next-Generation Sequencing What to consider as you evaluate options for automating library preparation. Yes, success can be automated. Next-generation sequencing

More information

AN AUTOMATED, HIGH-THROUGHPUT LIBRARY CONSTRUCTION PROTOCOL WITH BENEFITS FOR LOW-INPUT APPLICATIONS.

AN AUTOMATED, HIGH-THROUGHPUT LIBRARY CONSTRUCTION PROTOCOL WITH BENEFITS FOR LOW-INPUT APPLICATIONS. Poster Note As presented at AGBT 2014, Marco Island, FL AN AUTOMATED, HIGH-THROUGHPUT LIBRARY CONSTRUCTION PROTOCOL WITH BENEFITS FOR LOW-INPUT APPLICATIONS. Authors Maryke Appel 1, Olaf Stelling 2, Olga

More information

HTG EdgeSeq System Workflow Overview

HTG EdgeSeq System Workflow Overview HTG EdgeSeq System Workflow Overview The HTG EdgeSeq system is an automated chemistry and workflow solution based on HTG Molecular Diagnostics (HTG) extraction-free sample preparation technology and quantitative

More information

CGH Microarray Solutions for Genome-Wide Genetic Analysis

CGH Microarray Solutions for Genome-Wide Genetic Analysis Microarray Solutions for Genome-Wide Genetic Analysis Custom & Catalog Microarrays High Quality Data CALL OR LEARN MORE AT: 1-800-227-9770 www.agilent.com/genomics For Research Use Only. Not for use in

More information

SICKLE CELL ANEMIA & THE HEMOGLOBIN GENE TEACHER S GUIDE

SICKLE CELL ANEMIA & THE HEMOGLOBIN GENE TEACHER S GUIDE AP Biology Date SICKLE CELL ANEMIA & THE HEMOGLOBIN GENE TEACHER S GUIDE LEARNING OBJECTIVES Students will gain an appreciation of the physical effects of sickle cell anemia, its prevalence in the population,

More information

Next Generation Sequencing I: Technologies. Jim Noonan Department of Genetics

Next Generation Sequencing I: Technologies. Jim Noonan Department of Genetics Next Generation Sequencing I: Technologies Jim Noonan Department of Genetics Sequence as the readout for biological processes Determining the biological state of cells, tissues and organisms requires the

More information

New Technologies for Sensitive, Low-Input RNA-Seq. Clontech Laboratories, Inc.

New Technologies for Sensitive, Low-Input RNA-Seq. Clontech Laboratories, Inc. New Technologies for Sensitive, Low-Input RNA-Seq Clontech Laboratories, Inc. Outline Introduction Single-Cell-Capable mrna-seq Using SMART Technology SMARTer Ultra Low RNA Kit for the Fluidigm C 1 System

More information

Ankyrin 3 Genetic Association Studies of Bipolar Disorders

Ankyrin 3 Genetic Association Studies of Bipolar Disorders Ankyrin 3 Genetic Association Studies of Bipolar Disorders Wade Berrettini, MD, PhD The Karl E. Rickels Professor of Psychiatry and Director of the Center for Neurobiology and Behavior, Department of Psychiatry

More information

Ion Torrent Amplicon Sequencing

Ion Torrent Amplicon Sequencing APPLICATION NOTE Amplicon Sequencing Ion Torrent Amplicon Sequencing Introduction The ability to sequence a genome or a portion of a genome has enabled researchers to begin to understand how the genetic

More information

Services. Updated 05/31/2016

Services. Updated 05/31/2016 Updated 05/31/2016 Services 1. Whole exome sequencing... 2 2. Whole Genome Sequencing (WGS)... 3 3. 16S rrna sequencing... 4 4. Customized gene panels... 5 5. RNA-Seq... 6 6. qpcr... 7 7. HLA typing...

More information

The Power of Next-Generation Sequencing in Your Hands On the Path towards Diagnostics

The Power of Next-Generation Sequencing in Your Hands On the Path towards Diagnostics The Power of Next-Generation Sequencing in Your Hands On the Path towards Diagnostics The GS Junior System The Power of Next-Generation Sequencing on Your Benchtop Proven technology: Uses the same long

More information

ncounter Leukemia Fusion Gene Expression Assay Molecules That Count Product Highlights ncounter Leukemia Fusion Gene Expression Assay Overview

ncounter Leukemia Fusion Gene Expression Assay Molecules That Count Product Highlights ncounter Leukemia Fusion Gene Expression Assay Overview ncounter Leukemia Fusion Gene Expression Assay Product Highlights Simultaneous detection and quantification of 25 fusion gene isoforms and 23 additional mrnas related to leukemia Compatible with a variety

More information

Illumina Sequencing Technology

Illumina Sequencing Technology Illumina Sequencing Technology Highest data accuracy, simple workflow, and a broad range of applications. Introduction Figure 1: Illumina Flow Cell Illumina sequencing technology leverages clonal array

More information

LightCycler 480 Real-Time PCR System: Innovative Solutions for High-Throughput PCR

LightCycler 480 Real-Time PCR System: Innovative Solutions for High-Throughput PCR LightCycler 480 Real-Time PCR System: Innovative Solutions for High-Throughput PCR Options for High-Throughput PCR Robotics Automated plate loading Ready-to-use and stable reagents Increasing throughput

More information

Innovative genetics research and biomarker solutions to advance molecular medicine. Corporate Overview

Innovative genetics research and biomarker solutions to advance molecular medicine. Corporate Overview Innovative genetics research and biomarker solutions to advance molecular medicine Corporate Overview April 2013 1 Oxford Gene Technology (OGT) Advancing molecular medicine Well-established private genomics

More information

Automated Lab Management for Illumina SeqLab

Automated Lab Management for Illumina SeqLab Automated Lab Management for Illumina SeqLab INTRODUCTION Whole genome sequencing holds the promise of understanding genetic variation and disease better than ever before. In response, Illumina developed

More information

History of DNA Sequencing & Current Applications

History of DNA Sequencing & Current Applications History of DNA Sequencing & Current Applications Christopher McLeod President & CEO, 454 Life Sciences, A Roche Company IMPORTANT NOTICE Intended Use Unless explicitly stated otherwise, all Roche Applied

More information

Data Analysis for Ion Torrent Sequencing

Data Analysis for Ion Torrent Sequencing IFU022 v140202 Research Use Only Instructions For Use Part III Data Analysis for Ion Torrent Sequencing MANUFACTURER: Multiplicom N.V. Galileilaan 18 2845 Niel Belgium Revision date: August 21, 2014 Page

More information

Accelerate genomic breakthroughs in microbiology. Gain deeper insights with powerful bioinformatic tools.

Accelerate genomic breakthroughs in microbiology. Gain deeper insights with powerful bioinformatic tools. Accelerate genomic breakthroughs in microbiology. Gain deeper insights with powerful bioinformatic tools. Empowering microbial genomics. Extensive methods. Expansive possibilities. In microbiome studies

More information

Introduction to transcriptome analysis using High Throughput Sequencing technologies (HTS)

Introduction to transcriptome analysis using High Throughput Sequencing technologies (HTS) Introduction to transcriptome analysis using High Throughput Sequencing technologies (HTS) A typical RNA Seq experiment Library construction Protocol variations Fragmentation methods RNA: nebulization,

More information

Chapter 10 Manipulating Genes

Chapter 10 Manipulating Genes How DNA Molecules Are Analyzed Chapter 10 Manipulating Genes Until the development of recombinant DNA techniques, crucial clues for understanding how cell works remained lock in the genome. Important advances

More information

Institutional Partnership Program

Institutional Partnership Program GENEWIZ Outsourcing Services Institutional Partnership Program Solid Science. Superior Service. DNA Sequencing Partners to Fuel Your Success Institutions whose success depends on significant life science

More information

Nazneen Aziz, PhD. Director, Molecular Medicine Transformation Program Office

Nazneen Aziz, PhD. Director, Molecular Medicine Transformation Program Office 2013 Laboratory Accreditation Program Audioconferences and Webinars Implementing Next Generation Sequencing (NGS) as a Clinical Tool in the Laboratory Nazneen Aziz, PhD Director, Molecular Medicine Transformation

More information

COURSE OF BIOINFORMATICS

COURSE OF BIOINFORMATICS COURSE OF BIOINFORMATICS a.a. 2015-2016 Bioinformatic Analysis of Next Generation Sequencing Data What is massively parallel sequencing? Next-generation sequencing (NGS), also known as high-throughput

More information

INTRODUCTION TO NGS VARIANT CALLING ANALYSIS

INTRODUCTION TO NGS VARIANT CALLING ANALYSIS Hospital Universitari Vall d Hebron Institut de Recerca - VHIR Institut d Investigació Sanitària de l Instituto de Salud Carlos III (ISCIII) INTRODUCTION TO NGS VARIANT CALLING ANALYSIS Bioinformàtica

More information

ACMG clinical laboratory standards for next-generation sequencing

ACMG clinical laboratory standards for next-generation sequencing American College of Medical Genetics and Genomics ACMG Practice Guidelines ACMG clinical laboratory standards for next-generation sequencing Heidi L. Rehm, PhD 1,2, Sherri J. Bale, PhD 3, Pinar Bayrak-Toydemir,

More information

Next generation DNA sequencing technologies. theory & prac-ce

Next generation DNA sequencing technologies. theory & prac-ce Next generation DNA sequencing technologies theory & prac-ce Outline Next- Genera-on sequencing (NGS) technologies overview NGS applica-ons NGS workflow: data collec-on and processing the exome sequencing

More information

Buyer s Guide: Next-Generation Sequencing Systems

Buyer s Guide: Next-Generation Sequencing Systems Buyer s Guide: Next-Generation Sequencing Systems Covering All the Bases: What to Consider Before Making Your NGS System Purchase. This is an exciting time for biological research. Meaningful discovery

More information

Quantifiler Human DNA Quantification Kit Quantifiler Y Human Male DNA Quantification Kit

Quantifiler Human DNA Quantification Kit Quantifiler Y Human Male DNA Quantification Kit Product Bulletin Human Identification Quantifiler Human DNA Quantification Kit Quantifiler Y Human Male DNA Quantification Kit The Quantifiler kits produce reliable and reproducible results, helping to

More information

Development of two Novel DNA Analysis methods to Improve Workflow Efficiency for Challenging Forensic Samples

Development of two Novel DNA Analysis methods to Improve Workflow Efficiency for Challenging Forensic Samples Development of two Novel DNA Analysis methods to Improve Workflow Efficiency for Challenging Forensic Samples Sudhir K. Sinha, Ph.D.*, Anne H. Montgomery, M.S., Gina Pineda, M.S., and Hiromi Brown, Ph.D.

More information

TECHNOLOGY PATENTS IN THE (CONTINUED)... 16

TECHNOLOGY PATENTS IN THE (CONTINUED)... 16 CHAPTER ONE: INTRODUCTION... 1 STUDY GOALS AND OBJECTIVES... 1 REASONS FOR DOING THIS STUDY... 1 SCOPE AND FORMAT... 1 METHODOLOGY AND INFORMATION SOURCES... 2 INTENDED AUDIENCE... 2 ANALYST CREDENTIALS...

More information

Core Facility Genomics

Core Facility Genomics Core Facility Genomics versatile genome or transcriptome analyses based on quantifiable highthroughput data ascertainment 1 Topics Collaboration with Harald Binder and Clemens Kreutz Project: Microarray

More information

KAPA STRANDED RNA-SEQ KIT WITH RIBOERASE:

KAPA STRANDED RNA-SEQ KIT WITH RIBOERASE: Poster Note As presented at AGBT 5, Marco Island, FL KAPA STRANDED RNA-SEQ KIT WITH RIBOERASE: An effective and reliable enzymatic method for the depletion of ribosomal RNA for preparation of high-quality

More information

An Effect of a Shearing Process on the Re-Sequencing of the Arabidopsis thaliana Genome

An Effect of a Shearing Process on the Re-Sequencing of the Arabidopsis thaliana Genome APPLICATION Genomics CATEGORY Nucleic Acid Shearing ORGANIZATION Centre for the Analysis of Genome Evolution and Function, University of Toronto, Toronto, Canada CHALLENGE Overall performance of DNA nebulization

More information

Next Generation Sequencing

Next Generation Sequencing Next Generation Sequencing Technology and applications 10/1/2015 Jeroen Van Houdt - Genomics Core - KU Leuven - UZ Leuven 1 Landmarks in DNA sequencing 1953 Discovery of DNA double helix structure 1977

More information

Non-invasive Prenatal Deletion Test

Non-invasive Prenatal Deletion Test Non-invasive Prenatal Deletion Test offered by Baylor Miraca Genetics Laboratories Performed by and Powered by illumina Expanded Non-invasive Prenatal Test Expanded NIPT now includes the addition of microdeletion

More information

Assuring the Quality of Next-Generation Sequencing in Clinical Laboratory Practice. Supplementary Guidelines

Assuring the Quality of Next-Generation Sequencing in Clinical Laboratory Practice. Supplementary Guidelines Assuring the Quality of Next-Generation Sequencing in Clinical Laboratory Practice Next-generation Sequencing: Standardization of Clinical Testing (Nex-StoCT) Workgroup Principles and Guidelines Supplementary

More information

Scientific Working Group on DNA Analysis Methods. Validation Guidelines for DNA Analysis Methods. Table of Contents

Scientific Working Group on DNA Analysis Methods. Validation Guidelines for DNA Analysis Methods. Table of Contents Scientific Working Group on DNA Analysis Methods Validation Guidelines for DNA Analysis Methods Table of Contents Introduction.2 1. Definitions. 2 2. General Considerations 3 3. Developmental Validation..5

More information

Marker-Assisted Backcrossing. Marker-Assisted Selection. 1. Select donor alleles at markers flanking target gene. Losing the target allele

Marker-Assisted Backcrossing. Marker-Assisted Selection. 1. Select donor alleles at markers flanking target gene. Losing the target allele Marker-Assisted Backcrossing Marker-Assisted Selection CS74 009 Jim Holland Target gene = Recurrent parent allele = Donor parent allele. Select donor allele at markers linked to target gene.. Select recurrent

More information

14.3 Studying the Human Genome

14.3 Studying the Human Genome 14.3 Studying the Human Genome Lesson Objectives Summarize the methods of DNA analysis. State the goals of the Human Genome Project and explain what we have learned so far. Lesson Summary Manipulating

More information

School of Nursing. Presented by Yvette Conley, PhD

School of Nursing. Presented by Yvette Conley, PhD Presented by Yvette Conley, PhD What we will cover during this webcast: Briefly discuss the approaches introduced in the paper: Genome Sequencing Genome Wide Association Studies Epigenomics Gene Expression

More information

A leader in the development and application of information technology to prevent and treat disease.

A leader in the development and application of information technology to prevent and treat disease. A leader in the development and application of information technology to prevent and treat disease. About MOLECULAR HEALTH Molecular Health was founded in 2004 with the vision of changing healthcare. Today

More information

Rapid Aneuploidy and CNV Detection in Single Cells using the MiSeq System

Rapid Aneuploidy and CNV Detection in Single Cells using the MiSeq System i Technical Note: Reproductive Health Rapid Aneuploidy and CNV Detection in Single Cells using the MiSeq System Comparison between data generated from single cells using 24sure array-based screening and

More information

3. comparison with proteins of known function

3. comparison with proteins of known function Lectures 26 and 27 recombinant DNA technology I. oal of genetics A. historically - easy to isolate total DNA - difficult to isolate individual gene B. recombinant DNA technology C. why get the gene? 1.

More information

Ingenious Genes Curriculum Links for AQA AS (7401) and A-Level Biology (7402)

Ingenious Genes Curriculum Links for AQA AS (7401) and A-Level Biology (7402) Ingenious Genes Curriculum Links for AQA AS (7401) and A-Level Biology (7402) 3.1.1 Monomers and Polymers 3.1.4 Proteins 3.1.5 Nucleic acids are important information-carrying molecules 3.2.1 Cell structure

More information

Next Generation Polymerase Chain Reaction

Next Generation Polymerase Chain Reaction Next Generation Polymerase Chain Reaction Developed by Nobel laureate Kary Mullis in the 1980s, Polymerase Chain Reaction (PCR) is a molecular technology that allows fast and in vitro. It has since become

More information

HIGH-DEFINITION BIOLOGY. Span research through validation on Biomark HD

HIGH-DEFINITION BIOLOGY. Span research through validation on Biomark HD HIGH-DEFINITION BIOLOGY Span research through validation on Biomark HD 96.96 IFC BIOMARK HD: With the Biomark HD System, you get reliable production-scale throughput and exquisite single-cell sensitivity,

More information

Next Generation Sequencing: Technology, Mapping, and Analysis

Next Generation Sequencing: Technology, Mapping, and Analysis Next Generation Sequencing: Technology, Mapping, and Analysis Gary Benson Computer Science, Biology, Bioinformatics Boston University gbenson@bu.edu http://tandem.bu.edu/ The Human Genome Project took

More information

BacReady TM Multiplex PCR System

BacReady TM Multiplex PCR System BacReady TM Multiplex PCR System Technical Manual No. 0191 Version 10112010 I Description.. 1 II Applications 2 III Key Features.. 2 IV Shipping and Storage. 2 V Simplified Procedures. 2 VI Detailed Experimental

More information

Gene Mapping Techniques

Gene Mapping Techniques Gene Mapping Techniques OBJECTIVES By the end of this session the student should be able to: Define genetic linkage and recombinant frequency State how genetic distance may be estimated State how restriction

More information

2016 Molecular Pathology Series (ASCPi)

2016 Molecular Pathology Series (ASCPi) Lecture Hall, Federation of Medical Societies of, 4th Floor, Duke of Windsor Social Service Building, 15 Hennessy Road, Wanchai, 12 Apr (TUE) Molecular Science I 1. Nucleic Acid Chemistry 2. Structure

More information

Introduction to next-generation sequencing data

Introduction to next-generation sequencing data Introduction to next-generation sequencing data David Simpson Centre for Experimental Medicine Queens University Belfast http://www.qub.ac.uk/research-centres/cem/ Outline History of DNA sequencing NGS

More information

Ion AmpliSeq Technology

Ion AmpliSeq Technology Ion AmpliSeq Technology Dr. Franziska Freund Sr. Sequencing Sales Specialist 26.06.2015 1 The world leader in serving science Ion AmpliSeq Technology: As Simple As PCR Your targets, your genome, your panel

More information

Next Generation Sequencing Informatics Markets

Next Generation Sequencing Informatics Markets Next Generation Sequencing Informatics Markets Greg Caressi SVP Healthcare & Life Sciences November, 2014 Personalization, Communication, Decentralization, Collaboration From... One Size Fits All APPROACH...To

More information

The University is comprised of seven colleges and offers 19. including more than 5000 graduate students.

The University is comprised of seven colleges and offers 19. including more than 5000 graduate students. UNC CHARLOTTE A doctoral, research-intensive university, UNC Charlotte is the largest institution of higher education in the Charlotte region. The University is comprised of seven colleges and offers 19

More information

Technical Overview. Introduction. Signal:noise ratio > 3 for a single peak 2. Accuracy for software ladder: ±20 % 3

Technical Overview. Introduction. Signal:noise ratio > 3 for a single peak 2. Accuracy for software ladder: ±20 % 3 Performance of the D and High Sensitivity D ScreenTape Assays for the Agilent 22 TapeStation System Technical Overview Authors Susanne Glück Agilent Technologies, Waldbronn, Germany Jim Elliott Agilent

More information

Hybridization capture of DNA libraries using xgen Lockdown Probes and Reagents

Hybridization capture of DNA libraries using xgen Lockdown Probes and Reagents Hybridization capture of DNA libraries using xgen Lockdown Probes and Reagents For use with: xgen Lockdown Probes or Panels xgen Lockdown Reagents Illumina adapter-ligated libraries or Ion Torrent libraries

More information

Genotyping by sequencing and data analysis. Ross Whetten North Carolina State University

Genotyping by sequencing and data analysis. Ross Whetten North Carolina State University Genotyping by sequencing and data analysis Ross Whetten North Carolina State University Stein (2010) Genome Biology 11:207 More New Technology on the Horizon Genotyping By Sequencing Timeline 2007 Complexity

More information

Guideline for the submission of DNA sequences and associated annotations within the framework of Directive 2001/18/EC and Regulation (EC) No 1829/2003

Guideline for the submission of DNA sequences and associated annotations within the framework of Directive 2001/18/EC and Regulation (EC) No 1829/2003 Guideline for the submission of DNA sequences and associated annotations within the framework of Directive 2001/18/EC and Regulation (EC) No 1829/2003 European Reference Laboratory for Genetically Modified

More information

Overview. KAPAHiFi HotStart is the engineered KAPAHiFi DNA Polymerase with an antibody-based hot start technology and improved buffer system.

Overview. KAPAHiFi HotStart is the engineered KAPAHiFi DNA Polymerase with an antibody-based hot start technology and improved buffer system. Overview KAPAHiFi HotStart is the engineered KAPAHiFi DNA Polymerase with an antibody-based hot start technology and improved buffer system. KAPAHiFi HotStart exhibits: World leading fidelity confirmed

More information

Assessment Schedule 2014 Biology: Demonstrate understanding of genetic variation and change (91157) Evidence Statement

Assessment Schedule 2014 Biology: Demonstrate understanding of genetic variation and change (91157) Evidence Statement NCEA Level 2 Biology (91157) 2014 page 1 of 5 Assessment Schedule 2014 Biology: Demonstrate understanding of genetic variation and change (91157) Evidence Statement NCEA Level 2 Biology (91157) 2014 page

More information

Array-Based Gene Expression Analysis

Array-Based Gene Expression Analysis Array-Based Gene Expression Analysis Expression profiling products tailored for a variety of genetic research applications. Highlights High-Quality Data: Rigorously tested assays with internal controls

More information

Appendix 2 Molecular Biology Core Curriculum. Websites and Other Resources

Appendix 2 Molecular Biology Core Curriculum. Websites and Other Resources Appendix 2 Molecular Biology Core Curriculum Websites and Other Resources Chapter 1 - The Molecular Basis of Cancer 1. Inside Cancer http://www.insidecancer.org/ From the Dolan DNA Learning Center Cold

More information

Introduction To Real Time Quantitative PCR (qpcr)

Introduction To Real Time Quantitative PCR (qpcr) Introduction To Real Time Quantitative PCR (qpcr) SABiosciences, A QIAGEN Company www.sabiosciences.com The Seminar Topics The advantages of qpcr versus conventional PCR Work flow & applications Factors

More information

2. True or False? The sequence of nucleotides in the human genome is 90.9% identical from one person to the next. False (it s 99.

2. True or False? The sequence of nucleotides in the human genome is 90.9% identical from one person to the next. False (it s 99. 1. True or False? A typical chromosome can contain several hundred to several thousand genes, arranged in linear order along the DNA molecule present in the chromosome. True 2. True or False? The sequence

More information

High-quality genomic DNA isolation and sensitive mutation analysis

High-quality genomic DNA isolation and sensitive mutation analysis Application Note High-quality genomic DNA isolation and sensitive mutation analysis Izabela Safin, Ivonne Schröder-Stumberger and Peter Porschewski Introduction A major objective of cancer research is

More information

Mitochondrial DNA Analysis

Mitochondrial DNA Analysis Mitochondrial DNA Analysis Lineage Markers Lineage markers are passed down from generation to generation without changing Except for rare mutation events They can help determine the lineage (family tree)

More information

CAP BIOINFORMATICS Su-Shing Chen CISE. 10/5/2005 Su-Shing Chen, CISE 1

CAP BIOINFORMATICS Su-Shing Chen CISE. 10/5/2005 Su-Shing Chen, CISE 1 CAP 5510-8 BIOINFORMATICS Su-Shing Chen CISE 10/5/2005 Su-Shing Chen, CISE 1 Genomic Mapping & Mapping Databases High resolution, genome-wide maps of DNA markers. Integrated maps, genome catalogs and comprehensive

More information

Using Molecular Markers in Plant Genetics Research Unlocking genetic potential for increased productivity

Using Molecular Markers in Plant Genetics Research Unlocking genetic potential for increased productivity Using Molecular Markers in Plant enetics Research Unlocking genetic potential for increased productivity Molecular Markers Researchers at Pioneer blaze a new genetic trail. Identifying molecular markers

More information

Disease gene identification with exome sequencing

Disease gene identification with exome sequencing Disease gene identification with exome sequencing Christian Gilissen Dept. of Human Genetics Radboud University Nijmegen Medical Centre c.gilissen@antrg.umcn.nl Contents Infrastructure Exome sequencing

More information

Genetic Analysis. Phenotype analysis: biological-biochemical analysis. Genotype analysis: molecular and physical analysis

Genetic Analysis. Phenotype analysis: biological-biochemical analysis. Genotype analysis: molecular and physical analysis Genetic Analysis Phenotype analysis: biological-biochemical analysis Behaviour under specific environmental conditions Behaviour of specific genetic configurations Behaviour of progeny in crosses - Genotype

More information

QuantStudio 12K Flex Real-Time PCR System. The all-in-one qpcr instrument

QuantStudio 12K Flex Real-Time PCR System. The all-in-one qpcr instrument QuantStudio 12K Flex Real-Time PCR System The all-in-one qpcr instrument Expand the boundaries of your research Life Technologies is taking qpcr to the next level. Designed for maximum throughput, flexibility,

More information