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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, Washington University School of Medicine; James A. Knowles, University of Southern California, Keck School of Medicine; John D. McPherson, Ontario Institute for Cancer Research

Due January 2019 • 250 pages (approx.), illus, index
Paperback • $135 94.50
ISBN  978-1-621821-13-7
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  •     Contents    


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.


Clinical Versus Research Sequencing
Yuriy Shevchenko and Sherri Bale
The Use of Next-Generation Sequencing for Research and Diagnostics for Intellectual Disability
Ricardo Harripaul, Adbul Noor, Muhammad Ayub, and John B. Vincent
Next-Generation Sequencing and the Return of Results
Bartha Maria Knoppers, Minh Thu Nguyen, Karine Sénécal, Anne Marie Tassé, and Ma’n H. Zawati
High Throughput Sequencing and Assessing Disease Risk
Shannon M. Rego and Michael P. Snyder
Characterizing the Cancer Genome in Blood
Sarah-Jane Dawson
Whole Genome Sequencing in Cancer
Eric Y. Zhao, Martin Jones, and Steven J.M. Jones
Next-Generation Sequencing Strategies
Shawn Levy
Emily Hodges
Basics of Technologies
John McPherson and Richard McCombie
Cancer Genomics Overview
Elaine Mardis
Single Cell Analysis
Jim Hicks
The Role of Next-Generation Sequencing in Pharmacogenetics and Pharmacogenomics
Ute I. Schwarz, Markus Gulilat, and Richard B. Kim
Optimized Capture Reagents and Their Clinical Impact
Richard Gibbs and Donna Marie Muzny
Sequencing in Autism
Stephan Sanders