Next Generation Sequencing: Translation to Clinical Diagnostics [1 ed.] 978-1-4614-7000-7, 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
278 48 3KB
English Pages 302 [301] Year 2013
Table of contents :
Front Matter....Pages i-xi
Front Matter....Pages 1-1
History of DNA Sequencing Technologies....Pages 3-17
Clinical Molecular Diagnostic Techniques: A Brief Review....Pages 19-36
Front Matter....Pages 37-37
Methods of Gene Enrichment and Massively Parallel Sequencing Technologies....Pages 39-58
Sequence Alignment, Analysis, and Bioinformatic Pipelines....Pages 59-77
Protein Structural Based Analysis for Interpretation of Missense Variants at the Genomics Era: Using MNGIE Disease as an Example....Pages 79-96
Algorithms and Guidelines for Interpretation of DNA Variants....Pages 97-112
Front Matter....Pages 113-113
NGS-Based Clinical Diagnosis of Genetically Heterogeneous Disorders....Pages 115-150
Molecular Diagnosis of Congenital Disorders of Glycosylation (CDG)....Pages 151-165
NGS Improves the Diagnosis of X-Linked Intellectual Disability (XLID)....Pages 167-186
NGS Analysis of Heterogeneous Retinitis Pigmentosa....Pages 187-202
Next-Generation Sequencing Analyses of the Whole Mitochondrial Genome....Pages 203-219
Application of Next-Generation Sequencing of Nuclear Genes for Mitochondrial Disorders....Pages 221-239
Noninvasive Prenatal Diagnosis Using Next-Generation Sequencing....Pages 241-251
Front Matter....Pages 253-253
Guidelines and Approaches to Compliance with Regulatory and Clinical Standards: Quality Control Procedures and Quality Assurance....Pages 255-273
Validation of NGS-Based DNA Testing and Implementation of Quality Control Procedures....Pages 275-285
Frequently Asked Questions About the Clinical Utility of Next-Generation Sequencing in Molecular Diagnosis of Human Genetic Diseases....Pages 287-299
Back Matter....Pages 301-302
Front Matter....Pages i-xi
Front Matter....Pages 1-1
History of DNA Sequencing Technologies....Pages 3-17
Clinical Molecular Diagnostic Techniques: A Brief Review....Pages 19-36
Front Matter....Pages 37-37
Methods of Gene Enrichment and Massively Parallel Sequencing Technologies....Pages 39-58
Sequence Alignment, Analysis, and Bioinformatic Pipelines....Pages 59-77
Protein Structural Based Analysis for Interpretation of Missense Variants at the Genomics Era: Using MNGIE Disease as an Example....Pages 79-96
Algorithms and Guidelines for Interpretation of DNA Variants....Pages 97-112
Front Matter....Pages 113-113
NGS-Based Clinical Diagnosis of Genetically Heterogeneous Disorders....Pages 115-150
Molecular Diagnosis of Congenital Disorders of Glycosylation (CDG)....Pages 151-165
NGS Improves the Diagnosis of X-Linked Intellectual Disability (XLID)....Pages 167-186
NGS Analysis of Heterogeneous Retinitis Pigmentosa....Pages 187-202
Next-Generation Sequencing Analyses of the Whole Mitochondrial Genome....Pages 203-219
Application of Next-Generation Sequencing of Nuclear Genes for Mitochondrial Disorders....Pages 221-239
Noninvasive Prenatal Diagnosis Using Next-Generation Sequencing....Pages 241-251
Front Matter....Pages 253-253
Guidelines and Approaches to Compliance with Regulatory and Clinical Standards: Quality Control Procedures and Quality Assurance....Pages 255-273
Validation of NGS-Based DNA Testing and Implementation of Quality Control Procedures....Pages 275-285
Frequently Asked Questions About the Clinical Utility of Next-Generation Sequencing in Molecular Diagnosis of Human Genetic Diseases....Pages 287-299
Back Matter....Pages 301-302
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