Next Generation Sequencing : Translation to Clinical Diagnostics /
| Autor Corporativo: | |
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| Otros Autores: | |
| Formato: | eBook |
| Lenguaje: | English |
| Publicado: |
New York, NY :
Springer New York : Imprint: Springer,
2013.
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| Edición: | 1st ed. 2013. |
| Materias: |
Tabla de Contenidos:
- 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.