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Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders - Hardcover

 
9783319564166: Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders
Hardcover
ISBN 10: 3319564161 ISBN 13: 9783319564166
Verlag: Springer, 2017

Inhaltsangabe

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.

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Über die Autorin bzw. den Autor

Dr. Wong received her BS in Biochemistry from National Taiwan University and her Ph.D. in Chemistry from the Ohio State University. She did her postdoctoral training in biochemical sciences at Fox Chase Cancer Center in Philadelphia, with the Nobel Laureate Dr. Irwin Rose, and at Princeton University with Dr. Bruce Alberts, the past president of the US National Academy of Science. She became involved in genetics and received further training at Baylor College of Medicine. She is certified by the American Board of Medical Genetics in the specialty areas of Clinical Molecular Genetics and Biochemical Genetics. Dr. Wong served as the Director of the Molecular Diagnostic Laboratory at Childrens Hospital Los Angeles and Georgetown University for 10 years before rejoining Baylor College of Medicine as a professor in the Department of Molecular and Human Genetics. There she heads the Mitochondrial/Metabolic Molecular Diagnostic Laboratory. Dr. Wong's research focuses on mitochondrialgenetics and function in disease, aging, and cancer. She has published over 250 peer-reviewed articles, 13 book chapters, and edited 3 books.

Von der hinteren Coverseite

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.

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Verlag
Springer
Erscheinungsdatum
2017
Sprache
Englisch
ISBN 10 
3319564161
ISBN 13 
9783319564166
Einband
Gebundene Ausgabe
Auflage
1
Anzahl der Seiten
372
Herausgeber
Wong Lee-Jun C.
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