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Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders

Overview of attention for book
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 4: The Next Generation Sequencing Based Molecular Diagnosis of Visual Diseases
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