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Clinical Genomics A Guide to Clinical Next Generation Sequencing

ISBN: 9780323900249
ISBN: 9780323900249
Εκδόσεις: Academic Press

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2η έκδοση

185,00€(Περιλαμβάνεται ΦΠΑ 6%)

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Clinical Genomics, Second Edition provides a full overview of next-generation sequencing (NGS) technologies that are currently used in clinical diagnostic laboratories. The book presents key bioinformatic challenges and solutions that must be addressed by clinical genomicists and genomic pathologists, such as specific pipelines for identification of the full range of variants that are clinically important. It focuses on the challenges of diagnostic interpretation of NGS results in a clinical setting, with later sections devoted to emerging regulatory issues governing the clinical use of NGS and reimbursement paradigms that will affect the way in which laboratory professionals get compensated for testing.Following the wide use of the current edition by clinicians and researchers alike, this fully revised, new edition addresses the evolving landscape of genomics medicine, along with recent advances in our understanding of molecular mechanisms of human diseases and developmental biology. In addition, the book updates on sequencing chemistry and platforms, bioinformatics algorithms, clinical informatics, IT infrastructure and emerging applications of artificial intelligence in genomics.

Key Features

  • Simplifies the complexities of NGS technologies for rapid education of clinical genomicists and genomic pathologists
  • Instructs in tested practice-based analysis for precision diagnosis and treatment plans, as well as pipelines and meta-analysis for a full range of clinically important variants
  • Provides technical consideration for the validation and implementation of bioinformatics pipelines and related resources in the clinical molecular laboratory
  • Addresses novel sequencing technologies, including long-read sequencing for detecting structural variants and haplotypes
  • Covers cloud computing and Modern IT infrastructure (data storage, security, analytics) for scalable and secure genomics medicine


Section I: Methods

1. Overview of Technical Aspects and Chemistries of Next-Generation Sequencing

2. Clinical Genome Sequencing

3. Targeted Hybrid Capture Methods

4. Amplification-Based Methods

5. Emerging DNA Sequencing Technologies

6. RNA-Sequencing and Methylome Analysis

Section II: Bioinformatics

7. Base Calling, Read Mapping, and Coverage Analysis

8. Single Nucleotide Variant Detection Using Next Generation Sequencing

9. Insertions and Deletions (Indels)

10. Translocation Detection Using Next-Generation Sequencing

11. Structural Variant Detection

12. The Human Reference Genome

Section III: Clinical Informatics and IT Infrastructure

13. Data Storage

14. Data Analytics – Platforms and Technologies

15. Genomic Data Security and Privacy

16. Cloud Computing

17. Clinical NGS IT infrastructure implementation and validation

Section IV: Interpretation

18. Reference Databases for Disease Associations

19. Reporting of Clinical Genomics Test Results

20. Reporting Software

21. Constitutional Diseases: Amplification-Based Next-Generation Sequencing

22. Targeted Hybrid Capture for Inherited Disease Panels

23. Constitutional Disorders: Whole Exome and Whole Genome Sequencing

24. Somatic Diseases (Cancer): Amplification-Based Next-Generation Sequencing

25. Targeted Hybrid-Capture for Somatic Mutation Detection in the Clinic

26. Somatic Diseases (Cancer): Whole Exome and Whole Genome Sequencing

Section V: Regulation, Reimbursement, and Legal Issues

27. Assay Validation

28. Regulatory Considerations Related to Clinical Next Generation Sequencing

29. Genomic Reference Materials for Clinical Applications

30. Ethical Challenges to Next-Generation Sequencing

31. Legal Issues

32. Billing and Reimbursement Index