Next Generation Sequencing Book by Lee-Jun C. Wong
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Next Generation Sequencing

Next Generation Sequencing


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International Edition


About the Book

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.


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Product Details
  • ISBN-13: 9781489985491
  • Publisher: Springer-Verlag New York Inc.
  • Binding: Paperback
  • Height: 234 mm
  • No of Pages: 302
  • Series Title: English
  • Sub Title: Translation to Clinical Diagnostics
  • Width: 156 mm
  • ISBN-10: 1489985492
  • Publisher Date: 09 Jul 2015
  • Edition: 2013 ed.
  • Language: English
  • Returnable: N
  • Spine Width: 17 mm
  • Weight: 494 gr


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