Next generation sequencing based clinical molecular diagnosis of human genetic disorders /

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Bibliographic Details
Imprint:Cham : Springer, 2017.
Description:1 online resource
Language:English
Subject:
Format: E-Resource Book
URL for this record:http://pi.lib.uchicago.edu/1001/cat/bib/11273935
Hidden Bibliographic Details
Other authors / contributors:Wong, Lee-Jun C.
ISBN:9783319564180
3319564188
9783319564166
3319564161
Digital file characteristics:text file PDF
Notes:Includes index.
Includes bibliographical references at the end of each chapters and index.
Print version record.
Summary:Next Generation Sequencing technology has been applied to clinical diagnoses in the past three to five years using various approaches, including target gene panels and whole exomes. The purpose of this book is to summarize the experiences, the results, advantages and disadvantages, along with future development in the area of NGS-based molecular diagnosis. This up-to-date volume will not only provide the readers working with Next Generation Sequencing the basics on how to apply the technology to molecular diagnosis, but will present the results and experience of practical application.
Other form:Print version: Next generation sequencing based clinical molecular diagnosis of human genetic disorders. Cham : Springer, 2017 9783319564166 3319564161
Standard no.:10.1007/978-3-319-56418-0