新世代定序技術：應用及市場報告（概要）

新世代定序技術：應用及市場報告（概要） 是由出版商Insight Pharma Reports在2010年10月所出版的。 這份英文市場調查報告書價格從美金3195起跳。

簡介

本報告為，匯整新世代定序技術概要及及基礎研究、應用研究、市場規模及趨勢、專家見解等，以下列摘要形式闡述。

實施概要

第1章 簡介

第2章 新世代定序應用

• 人類基因組計畫
• 目前新世代定序應用途徑
• 個別化醫療典範之出現

第3章 基礎研究

• 表觀遺傳學
• ChIP定序
• RNA定序
• Exome定序
• 免疫遺傳學
• 發病機制
• 多源基因體學
• 發展
• 其他

第4章 應用研究

• 診斷
• 創藥
• 農業及動物基因組學
• 新世代定序相關財團及合作計畫

第5章 市場相關課題

• 用戶調查結果
• 市場規模、特徵、成長
• 發展診斷
• 新世代定序及微陣列市場
• 引起討論之人類基因組市場
• Exome及全基因定序

第6章 結論及趨勢

• 人類基因組
• 發展計畫
• 調查結論

第7章 專家見解

參考

企業索引（附網址）

目錄

Abstract

Next-generation sequencing (NGS) has taken the worldwide biomedical research community by storm. Funding is relatively abundant for the moment, collaborative programs and consortia abound, and early results in many cases appear to justify all the activity. Many observers sense imminent new revelations and even paradigm shifts offering significant improvements in the understanding and treatment of disease. Discussed in this report:

• Evolution of NGS technologies and applications
• Applications of NGS in basic and applied research
• Issues related to the popularity, viability, and cost of NGS applications
• Key market-related issues in the field
• Survey results and views among current and prospective NGS users
• Interview transcripts with industry experts

Following an overview of the evolution of NGS, Next-Generation Sequencing Technologies: Applications and Markets turns to an examination of NGS applications in basic and applied research. A great deal of NGS effort today centers on cancer, but other basic research areas stand to benefit as well (e.g., immunogenetic studies, neurological and psychiatric diseases, infectious diseases, metagenomics, evolution). NGS has empowered the growth of epigenomics; several approaches exist, but bisulfite-enabled Methyl-seq currently dominates the scene.

NGS is also becoming increasingly popular for applications once dominated by microarrays. ChIP-seq' s improved data quality compared to microarrays permits greater accuracy in identifying protein-binding DNA targets. RNA-seq provides an alternative to microarrays in assessing cell transcriptomes and is well on its way to becoming the dominant mode in transcriptomics.

Although much of the benefit to date from NGS-based investigation falls in the basic research realm, a number of applied research areas are starting to show progress as well. Essentially all NGS manufacturers have intense interest in diagnostic applications, often both as supplier and participant. Collaborative programs aimed at such applications are now in progress. Several companies have focused on epigenetic assays in cancer resulting in some early commercial activity, but products have generally been slow to emerge.

Personal genomics has also been slow to develop as a business area. The field remains rather controversial, with proponents looking to its brilliant possibilities and opponents emphasizing the limited value of current offerings. However, the rapid pace of NGS basic research is likely to add significant value to personal genome sequencing in the next several years. Nearer-term NGS applications with established value include aneuploidy detection, carrier screening tests for multiple Mendelian diseases, mitochondrial DNA sequencing for a number of diseases, and others.

Next-Generation Sequencing Technologies: Applications and Markets includes observations from a survey we conducted among current and prospective NGS users regarding their practices and views on NGS adoption and applications. Tabulated results from the survey, along with clarifications and discussion, are provided. Also, although this report is focused on NGS applications, we provide some context with a brief look at what is known about the size and nature of the market for next-gen sequencing instruments and reagents. Also examined are trends within particular application areas.

Finally, we provide conclusions and prognosticate on possible future trends in the field. Included are full transcripts of interviews we conducted with researchers and managers knowledgeable in various aspects of NGS applications.

Table of Contents

EXECUTIVE SUMMARY

• Evolution of Next-Generation Sequencing v
• Basic Research vi
• Applied Research vii
• Market-Related Issues viii
• Summary of Survey Results viii
• Conclusions and Trends ix

CHAPTER 1 INTRODUCTION 1

• Scope and Nature of the Report 2

CHAPTER 2 EVOLUTION OF NEXT-GENERATION SEQUENCING APPLICATIONS 3

• 2.1. The Human Genome Project 3
• 2.2. The Path to Current Next-Generation Sequencing Applications 7
• 2.3. Rise of the Personalized Medicine Paradigm 9

CHAPTER 3 BASIC RESEARCH 13

• 3.1. Epigenetics 15
  • Methylation 15
• 3.2. ChIP-Seq 20
• 3.3. RNA-seq 20
• 3.4. Exome Sequencing 22
• 3.5. Immunogenetics 25
• 3.6. Disease Mechanisms 26
  • Cancer 26
  • Neurological and Psychiatric Diseases 32
  • Infectious Diseases 32
• 3.7. Metagenomics 33
• 3.8. Evolution 35
• 3.9. Other 36

CHAPTER 4 APPLIED RESEARCH 39

• 4.1. Diagnostics 39
  • Cancer 39
  • Epigenetics and Cancer Diagnostics 42
  • Personal Genomics and Disease Prediction 43
  • Aneuploidy Detection 45
  • Carrier Screening 45
  • Other Diagnostic Activity 47
• 4.2. Drug Discovery 50
• 4.3. Agriculture and Animal Genomics 54
  • Plant 54
  • Animal 56
• 4.4. NGS-Related Consortia and Collaborative Projects 57

CHAPTER 5 MARKET-RELATED ISSUES 59

• 5.1. User Survey Results 59
• 5.2. Next-Gen Sequencing Market Size, Character, and Growth 79
• 5.3. Translation to Diagnostics 80
• 5.4. Next-Gen Sequencing vs. the Microarray Market 82
• 5.5. The Controversial Personal Genomics Market 82
• 5.6. Exome vs. Whole Genome Sequencing 83

CHAPTER 6 CONCLUSIONS AND TRENDS 85

• 6.1. Personal Genomics 86
• 6.2. Translational Prospects 88
• 6.3. Survey Conclusions 95

CHAPTER 7 EXPERT INTERVIEWS 97

• 7.1. Elaine Mardis, PhD, Co-Director, Director of Technology Development, The Genome Center at Washington University, St. Louis, MO 97
• 7.2. Eric Schadt, PhD, Chief Scientific Officer, Pacific Biosciences, Menlo Park, CA 105
• 7.3. Muin J. Khoury, MD, PhD, Director, Office of Public Health Genomics, Centers for Disease Control and Prevention (CDC), Atlanta, GA 111
• 7.4. Pharmaceutical Executive, Applied Genomics, Huntsville, AL 117
• 7.5. Stephan Zuchner, MD, Associate Professor, Department of Human Genetics, Director, Center for Human Molecular Genomics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 123
• 7.6. Steve S. Sommer, MD, PhD, Founder and President, MEDomics, Azusa, CA 128

REFERENCES 133

COMPANY INDEX WITH WEB ADDRESSES 143

Press Release

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