Next Generation Sequencing Translation to Clinical Diagnostics /

In recent years, owing to the fast development of a variety of sequencing technologies in the post human genome project era, sequencing analysis of a group of target genes, entire protein coding regions of the human genome, and the whole human genome has become a reality.  Next Generation Sequencing...

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Bibliographic Details
Corporate Author: SpringerLink (Online service)
Other Authors: Wong, Lee-Jun C. (Editor,
Format: Electronic eBook
Published: New York, NY : Springer New York : Imprint: Springer, 2013.
Edition:1st ed. 2013.
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Table of Contents:
  • Part I: Overview.- History of DNA Sequencing Technologies
  • Clinical Molecular Diagnostic Techniques: A Brief Review
  • Part II: The Technologies and Bioinformatics
  • Methods of Gene Enrichment and Massively Parallel Sequencing Technologies
  • Sequence Alignment, Analysis, and Bioinformatics Pipelines
  • Protein Structural Based Analysis for Variant Interpretation of Missense Variants at the Genomics Era: Using MNGIE Disease as an Example
  • Algorithms and Guidelines for Interpretation of DNA Variants
  • Part III: Application to Clinical Diagnostics
  • NGS-based Clinical Diagnosis of Genetically Heterogeneous Disorders
  • Molecular Diagnosis of Congenital Disorders of Glycosylation (CDG)
  • NGS Improves the Diagnosis of X-Linked Intellectual Disability (XLID)
  • NGS Analysis of Heterogeneous Retinitis Pigmentosa
  • Next Generation Sequencing of the Whole Mitochondrial Genome
  • Application of Next-Generation Sequencing of Nuclear Genes for Mitochondrial Disorders
  • Noninvasive Prenatal Diagnosis Using Next Generation Sequencing
  • Part IV: Compliance with CAP/CLIA Regulations
  • Guidelines and Approaches to Compliance with Regulatory and Clinical Standards: Quality Control Procedures and Quality Assurance
  • Validation of NGS-based Test and Implementation of Quality Control Procedures
  • Frequently Asked Questions about the Clinical Utility of Next Generation Sequencing in Molecular Diagnosis of Human Genetic Diseases
  • Index.