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Next-Generation Sequencing in Medicine

Book Series:  A Cold Spring Harbor Perspectives in Medicine Collection
Subject Area(s):  Human Biology and DiseaseMolecular Biology

Edited by W. Richard McCombie, Cold Spring Harbor Laboratory; Elaine R. Mardis, Institute for Genomic Medicine at Nationwide Children’s Hospital and The Ohio State University College of Medicine; James A. Knowles, SUNY Downstate Medical Center; John D. McPherson, University of California Davis, Comprehensive Cancer Center

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Next-Generation Sequencing Technologies

© 2019 • 192 pages, illustrated (27 color), index
Hardcover • $135 94.50
ISBN  978-1-621821-13-7
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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.


Next-Generation Sequencing Technologies
W. Richard McCombie, John D. McPherson, and Elaine R. Mardis
Next-Generation Sequencing Strategies
Shawn E. Levy and Braden E. Boone
Single-Cell Applications of Next-Generation Sequencing
Naishitha Anaparthy, Yu-Jui Ho, Luciano Martelotto, Molly Hammell, and James Hicks
Sequencing in High Definition Drives a Changing Worldview of the Epigenome
Emily Hodges
Clinical Versus Research Sequencing
Yuriy Shevchenko and Sherri Bale
High-Throughput Sequencing and Assessing Disease Risk
Shannon M. Rego and Michael P. Snyder
The Use of Next-Generation Sequencing for Research and Diagnostics for Intellectual Disability
Ricardo Harripaul, Abdul Noor, Muhammad Ayub, and John B. Vincent
Next-Generation Sequencing in Autism Spectrum Disorder
Stephan J. Sanders
The Role of Next-Generation Sequencing in Pharmacogenetics and Pharmacogenomics
Ute I. Schwarz, Markus Gulilat, and Richard B. Kim
Whole-Genome Sequencing in Cancer
Eric Y. Zhao, Martin Jones, and Steven J.M. Jones
Characterizing the Cancer Genome in Blood
Sarah-Jane Dawson
The Impact of Next-Generation Sequencing on Cancer Genomics: From Discovery to Clinic
Elaine R. Mardis
Next-Generation Sequencing and the Return of Results
Bartha Maria Knoppers, Minh Thu Nguyen, Karine Sénécal, Anne Marie Tassé, and Ma’n H. Zawati
Future Promises and Concerns of Ubiquitous Next-Generation Sequencing
W. Richard McCombie and John D. McPherson

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