Next-Generation Sequencing in Medicine

Next-generation sequencing technologies have the capacity to generate large numbers of DNA sequence reads at relatively high speed and low cost. These technologies have revolutionized biomedical research and are increasingly employed in clinical settings, where they can be used to detect inherited disorders, predict disease risk, and personalize therapies.

Written and edited by experts in the field, this collection from Cold Spring Harbor Perspectives in Medicine examines next-generation sequencing technologies and their use, particularly in translational research. The contributors discuss the various sequencing platforms, their capabilities, and their applications in both research and clinical practice. The roles of next-generation sequencing in diagnosing autism and intellectual disabilities, monitoring cancers during disease progression, and determining the most appropriate drug treatments for patients are also covered.

In addition, the authors consider the practical challenges (e.g., data storage) and ethical implications of using next-generation sequencing technologies. This volume is therefore an essential read for all scientists and physicians interested in these technologies and how they are impacting biomedicine.

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Preface

1. Clinical Versus Research Sequencing
Yuriy Shevchenko and Sherri Bale

2. The Use of Next Generation Sequencing for Research and Diagnostics for Intellectual Disability
Ricardo Harripaul, Adbul Noor, Muhammad Ayub, and John B. Vincent

3. Next-Generation Sequencing and the Return of Results
Bartha Maria Knoppers, Minh Thu Nguyen, Karine Sénécal, Anne Marie Tassé,
and Ma'n H. Zawati

4. High Throughput Sequencing and Assessing Disease Risk
Shannon M. Rego and Michael P. Snyder

5. Characterizing the Cancer Genome in Blood
Sarah-Jane Dawson

6. NGS Strategies
Shawn Levy

7. Epigenetics
Emily Hodges

8. Basics of Technologies
John McPherson & W. Richard McCombie

9. Cancer Genomics Overview
Elaine Mardis

10. Germline Cancer Sequencing
Kenneth Offit & Zsofia Stadler

11. Sequencing in Autism
Stephan Sanders

12. The Role of Next-Generation Sequencing in Pharmacogenetics and Pharmacogenomics
Ute I. Schwarz, Markus Gulilat, and Richard B. Kim

13. Microbial Epidemiology
Ken Dewar

14. Single Cell Analysis
Jim Hicks

15. Optimized Capture Reagents & Their Clinical Impact
Richard Gibbs & Donna Marie Muzny

16. Whole Genome Sequencing in Cancer
Eric Y. Zhao, Martin Jones, and Steven J.M. Jones

Index