Next Generation Sequencing Translation to Clinical Diagnostics /

• Corporate Author: SpringerLink (Online service)
• Other Authors: Wong, Lee-Jun C. (Editor)
• Format: Electronic
• Language: English
• Published: New York, NY : Springer New York : Imprint: Springer, 2013.
• Subjects: Medicine.; Human genetics.; Bioinformatics.; Biomedicine.; Human Genetics.; Biomedicine general.
• Online Access: https://ezaccess.library.uitm.edu.my/login?url=http://dx.doi.org/10.1007/978-1-4614-7001-4

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...

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.