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Next-Generation Sequencing: Solving the Genome

Published by: CHI Insight Pharma Reports

Published: Jun. 1, 2009 - 164 Pages


Table of Contents


Chapter 1 INTRODUCTION

1.1. Background

1.2. Scope and Nature of the Report


Chapter 2 HISTORY AND EVOLUTION OF SEQUENCING TECHNOLOGY

2.1. Frederick Sanger & Early DNA Sequencing

2.2. Leroy Hood Pioneers Semi-Automated Sequencing

2.3. The Human Genome Project and Celera Genomics: Race On

2.4. The $1,000 Genome & Next-Generation Systems


Chapter 3 SEQUENCING TECHNOLOGIES: NEXT-GENERATION AND BEYOND

3.1. Current Next-Generation Sequencers

Roche/454 Life Sciences

Illumina

Applied Biosystems

Helicos

3.2. Sequencers Currently in Development

Complete Genomics

BioNanomatrix

VisiGen

Pacific Biosciences

Dover Systems

Intelligent Bio-Systems

ZS Genetics

Reveo

LightSpeed Genomics

3.3. Nanopore-Based Systems

NABsys

Oxford Nanopore Technologies

3.4. Performance Comparisons

3.5. Bioinformatics

3.6. Sample Preparation

3.7. National Human Genome Research Institute (NHGRI) Funding

3.8. Intellectual Property Issues


Chapter 4 APPLICATIONS OF NEXT-GENERATION SEQUENCING TECHNOLOGIES

4.1. Whole-Genome Sequencing

The 1,000 Genomes Project

Exon Sequencing

Accuracy and Precision in Genetic Variation Studies

4.2. RNA Sequencing

4.3. Gene Regulation and Control Analysis

4.4. Disease Diagnosis and Prediction

Cancer Genomics

Personal Genomics

4.5. Metagenomics


Chapter 5 MARKET DYNAMICS

5.1. Deals

5.2. User Survey Results

Chief Application for Next-Generation DNA Sequencing

Main Organism for Next-Generation Sequencing

User Experience with Next-Generation Platform, Industry Segment

Next-Generation Platform Predicted to Dominate in 2-3 Years

Most Exciting Third-Generation Platform

Applications to Benefit Most from Next-Generation Sequencing

Research Areas to Benefit Most from Next-Generation Sequencing

Greatest Technical Concern about Next-Generation Sequencing Platforms

Greatest Computational/IT Concern

Adequate Cost/Benefit from Next-Generation Sequencing

Cost of Full Human Genome Sequence by 2010

Opinion on Platform Market Dominance

Future of Sanger Sequencing

Most Important Factors in Selecting a Next-Generation System

Opinion on Acquiring Sequence from a Service Provider

5.3. The Competitive Environment


Chapter 6 OBSERVATIONS AND CONCLUSIONS


Chapter 7 INTERVIEW TRANSCRIPTS

7.1. Clifford Reid, PhD, Chairman, President, & CEO, Complete Genomics

7.2. Patrice Milos, PhD, VP & Chief Scientific Officer, Helicos BioSciences

7.3. Steven Salzberg, PhD, Director, Center for Bioinformatics and Computational Biology, University of Maryland

7.4. Todd Smith, PhD, Chief Science Officer, Geospiza

7.5. Anonymous Academic Researcher Active in Next-Generation Sequencing

7.6. Stephen Naylor, PhD, CSO & Chairman, Predictive Physiology and Medicine (PPM)


References


Company Index with Web Addresses

TABLES

Relative Performance of ABI, Illumina, and 454 Sequencers

Comparison of ABI, Illumina, and 454 Sequencers with Sanger Sequencing

Selected Deals in the Next-Generation Sequencing Space


FIGURES

Sanger Sequencing Methodology

Roche/454 Sequencing Concept

The Illumina Genome Analyzer Sequencing Concept

The Applied Biosystems SOLiD Sequencing Concept

The Complete Genomics cPAL Sequencing Concept

The Pacific Bioscience Sequencing Concept


SURVEY EXHIBITS

Chief Application of DNA Sequencing, Industry Respondents

Chief Application of DNA Sequencing, Academic Respondents

Main Organism for Next-Generation Sequencing, Industry Sector

Main Organism for Next-Generation Sequencing, Academic Sector

User Experience with Next-Generation Platform, Industry Sector

User Experience with Next-Generation Platform, Academic Sector

Next-Generation Platform Predicted to Dominate in 2-3 Years, Industry Sector

Next-Generation Platform Predicted to Dominate in 2-3 Years, Academic Sector

Most Exciting Third-Generation Platform, Industry Sector

Most Exciting Third-Generation Platform, Academic Sector

Applications to Benefit Most from Next-Generation Sequencing, Industry Sector

Applications to Benefit Most from Next-Generation Sequencing, Academic Sector

Research Areas to Benefit Most from Next-Generation Sequencing, Industry Sector

Research Areas to Benefit Most from Next-Generation Sequencing, Academic Sector

Biggest Technical Concern about Next-Generation Sequencing Platforms, Industry Sector

Biggest Technical Concern about Next-Generation Sequencing Platforms, Academic Sector

Biggest Computational/IT Concern, Industry Sector

Biggest Computational/IT Concern, Academic Sector

Adequate Cost/Benefit from Next-Generation Sequencing, Industry Sector

Adequate Cost/Benefit from Next-Generation Sequencing, Academic Sector

Cost of Full Human Genome Sequence by 2010, Industry Sector

Cost of Full Human Genome Sequence by 2010, Academic Sector

Opinion on Platform Market Dominance, Industry Sector

Opinion on Platform Market Dominance, Academic Sector

Does Sanger Sequencing (Capillary) Play a Role after 2010, Industry Sector?

Does Sanger Sequencing (Capillary) Play a Role after 2010, Academic Sector?

Most Important Factors in Selecting a Next-Generation System, Industry Sector

Most Important Factors in Selecting a Next-Generation System, Academic Sector

Buy Sequence from a 3rd-Party Service Provider, Industry Sector?

Buy Sequence from a 3rd-Party Service Provider, Academic Sector?

Abstract

Next-generation sequencing (NGS) technologies are advancing in quality and applications diversity at a breathtaking pace. The market is diversifying strongly into labs without previous involvement in sequencing. This report examines:
  • Current NGS platforms and how they compare
  • Market dynamics and competitive landscape for new entrants
  • Next-generation systems in development
  • Bioinformatics issues
  • Applications of NGS
  • User survey results and views of interviewees
The first generation of DNA sequencing can be said to have ended when the first few human genomes were sequenced and a large number of genetic variations were detected in a relatively few individuals. Sequencing throughput is rising dramatically as costs per unit of sequence are falling equally dramatically. Now it has become possible to sequence a sufficiently large number of human genomes to explore the extent and medical meaning of genetic variations in statistically meaningful ways. The race to the “$1,000 genome” is well underway, and the number of entrants is surprisingly large, as are the ingenuity and inventiveness that have been brought to race.

Next-Generation Sequencing: Solving the Genome provides a detailed overview of the technologies involved in next-generation sequencing, starting with the four systems currently on the market and continuing with those now in development. A number of companies have technologies that promise some advantage over existing systems, but whether those advantages will be great enough to merit significant market share remains an open question. We also provide an overview of bioinformatics issues in next-generation sequencing and a comparative analysis of currently available platforms.

Applications of next-generation sequencing discussed in this report include whole-genome sequencing, RNA resequencing, ChIP-seq, disease prediction and diagnosis, and personal genomics. Next-generation sequencing is starting to impinge on DNA microarray usage and should continue to do so as costs drop. Existing next-generation sequencing users are striving to expand the case for personal genomics and for personalized medicine in general. Next-generation systems are currently enabling the genome-wide association studies needed to identify the genome variants central to deeper understanding of the molecular basis of genetically complex diseases and predicting individual risk of developing them.

Next-Generation Sequencing: Solving the Genome examines market dynamics and includes discussions of key issues relating to the competitive position of various technologies and companies. Next-generation sequencing instruments and consumables are selling rapidly and contributing nicely to growth rates of the market leaders. Second-round players must offer significant improvements over current market entrants in order to merit viable market share. Third-round technologies, particularly those involving nanopores, remain speculative at present, but could serve to accelerate market decentralization by virtue of extremely low costs and high speeds.

An Insight Pharma survey of next-generation sequencing system users generated a number of interesting observations and opinions, which are discussed. Transcripts from extended interviews with scientists and managers knowledgeable in the field are also included.

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