| Description |
1 online resource |
| Contents |
Overview. History of DNA Sequencing Technologies / Lisa D. White -- Clinical Molecular Diagnostic Techniques: A Brief Review / Megan L. Landsverk, Lee-Jun C. Wong -- The Technologies and Bioinformatics. Methods of Gene Enrichment and Massively Parallel Sequencing Technologies / Hong Cui -- Sequence Alignment, Analysis, and Bioinformatic Pipelines / Fuli Yu, Cristian Coarfa -- Protein Structural Based Analysis for Interpretation of Missense Variants at the Genomics Era: Using MNGIE Disease as an Example / Victor Wei Zhang -- Algorithms and Guidelines for Interpretation of DNA Variants / Jing Wang, Megan Landsverk -- Application to Clinical Diagnosis. NGS-Based Clinical Diagnosis of Genetically Heterogeneous Disorders / C.A. Valencia, T.A. Sivakumaran, B.T. Tinkle -- Molecular Diagnosis of Congenital Disorders of Glycosylation (CDG) / Melanie Jones, Madhuri Hegde -- NGS Improves the Diagnosis of X-Linked Intellectual Disability (XLID) / Michael J. Friez, Monica J. Basehore -- NGS Analysis of Heterogeneous Retinitis Pigmentosa / Rui Chen, Feng Wang -- Next-Generation Sequencing Analyses of the Whole Mitochondrial Genome / Lee-Jun C. Wong -- Application of Next-Generation Sequencing of Nuclear Genes for Mitochondrial Disorders / Valeria Vasta, Si Houn Hahn -- Noninvasive Prenatal Diagnosis Using Next-Generation Sequencing / Nancy Bo Yin Tsui, Yuk Ming Dennis Lo -- Compliance with CAP/CLIA Regulations. Guidelines and Approaches to Compliance with Regulatory and Clinical Standards: Quality Control Procedures and Quality Assurance / Ira M. Lubin, Lisa Kalman, Amy S. Gargis -- Validation of NGS-Based DNA Testing and Implementation of Quality Control Procedures / Victor Wei Zhang, Lee-Jun C. Wong -- Frequently Asked Questions About the Clinical Utility of Next-Generation Sequencing in Molecular Diagnosis of Human Genetic Diseases / Ephrem L.H. Chin, Victor Wei Zhang, Jing Wang, Margherita Milone, Susan Pacheco |
| Summary |
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. Â Â Next Generation Sequencing (NGS) or Massively Parallel Sequencing (MPS) technologies offers a way to screen for mutations in many different genes in a cost and time efficient manner by deep coverage of the target sequences. Â This novel technology has now been applied to clinical diagnosis of Mendelian disorders of well ch |
| Analysis |
Medicine |
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Human genetics |
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Bioinformatics |
|
Biomedicine |
| Notes |
Includes index |
| Bibliography |
Includes bibliographical references and index |
| Notes |
English |
| In |
Springer eBooks |
| Subject |
Genetic disorders -- Diagnosis.
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Nucleotide sequence -- Data processing
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Bioinformatics.
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Computational biology.
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Computer science.
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Electronic data processing.
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Base Sequence
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Electronic Data Processing
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Computational Biology
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Genetics
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computer science.
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data processing.
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HEALTH & FITNESS -- Diseases -- Genetic.
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MEDICAL -- Genetics.
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Electronic data processing
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Computer science
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Computational biology
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Bioinformatics
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Genetic disorders -- Diagnosis
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Nucleotide sequence -- Data processing
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| Form |
Electronic book
|
| Author |
Wong, Lee-Jun C.
|
| ISBN |
9781461470014 |
|
1461470013 |
|
1461470005 |
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9781461470007 |
|
