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Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders

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Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders
Springer International Publishing

Table of Contents

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    Book Overview
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    Chapter 1 Overview of the Clinical Utility of Next Generation Sequencing in Molecular Diagnoses of Human Genetic Disorders
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    Chapter 2 Detection of Copy Number Variations (CNVs) Based on the Coverage Depth from the Next Generation Sequencing Data
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    Chapter 3 Next Generation Sequencing (NGS) Based Panel Analysis of Metabolic Pathways
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    Chapter 4 The Next Generation Sequencing Based Molecular Diagnosis of Visual Diseases
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    Chapter 5 Application of Next-Generation Sequencing to Hearing Loss
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    Chapter 6 Next-Generation Sequencing Based Clinical Molecular Diagnosis of Primary Immunodeficiency Diseases
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    Chapter 7 Next-Generation Sequencing Based Testing for Disorders of the Skeleton
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    Chapter 8 Diagnosing Hereditary Cancer Susceptibility Through Multigene Panel Testing
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    Chapter 9 Application of Next-Generation Sequencing in Noonan Spectrum Disorders
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    Chapter 10 The Applications and Challenges of Next-Generation Sequencing in Diagnosing Neuromuscular Disorders
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    Chapter 11 Next-Generation Sequencing for the Diagnosis of Monogenic Disorders of Insulin Secretion
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    Chapter 12 Application of NGS in the Diagnosis of Cardiovascular Genetic Diseases
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    Chapter 13 Comprehensive Analyses of the Mitochondrial Genome
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    Chapter 14 Exome Sequencing in the Clinical Setting
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    Chapter 15 Family-Based Next-Generation Sequencing Analysis
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    Chapter 16 Next Generation of Carrier Screening
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    Chapter 17 Erratum to: Application of Next-Generation Sequencing to Hearing Loss
Attention for Chapter 1: Overview of the Clinical Utility of Next Generation Sequencing in Molecular Diagnoses of Human Genetic Disorders
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Chapter title
Overview of the Clinical Utility of Next Generation Sequencing in Molecular Diagnoses of Human Genetic Disorders
Chapter number 1
Book title
Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders
Published by
Springer, Cham, January 2017
DOI 10.1007/978-3-319-56418-0_1
Book ISBNs
978-3-31-956416-6, 978-3-31-956418-0
Authors

Lee-Jun C. Wong

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 6 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 6 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 2 33%
Student > Bachelor 1 17%
Other 1 17%
Lecturer 1 17%
Unknown 1 17%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 2 33%
Computer Science 1 17%
Agricultural and Biological Sciences 1 17%
Medicine and Dentistry 1 17%
Unknown 1 17%