Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders
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Beschreibung
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.
Will cover the diagnostic yields of various Next Generation Sequencing applications
Readers will learn the advantages and disadvantages of panels and whole exome sequencing as it relates to human genetic disease
Includes a look at future medically relevant exomes
Will cover the diagnostic yields of various Next Generation Sequencing applications Readers will learn the advantages and disadvantages of panels and whole exome sequencing as it relates to human genetic disease Includes a look at future medically relevant exomes Includes supplementary material: sn.pub/extras
Autor*in
Lee-Jun C. Wong
Themen in »Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders«
NGS bioinformatics exome genetics genomics mitochondrial