Clinical Genomics
A Guide to Clinical Next Generation Sequencing
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Product details:
- Edition number 2
- Publisher Academic Press
- Date of Publication 20 October 2025
- ISBN 9780323900249
- Binding Paperback
- No. of pages562 pages
- Size 276x216 mm
- Language English
- Illustrations 120 illustrations (120 in full color) 700
Categories
Long description:
Clinical Genomics, Second Edition is a comprehensive, practical reference [AN1] designed specifically for laboratory directors, clinical medical directors, and genomic medicine professionals. Edited by renowned genomic pathology leaders Kulkarni and Roy, this updated edition offers clear guidance on the current technical, bioinformatic, clinical, regulatory, and reimbursement considerations involved in implementing next-generation sequencing technologies within clinical molecular diagnostic laboratories.
Structured for ease of reference, this book covers targeted gene sequencing methods, whole exome/genome approaches, emerging technologies such as long-read sequencing, and critical considerations for assay validation. Detailed sections address bioinformatics workflows, variant detection and interpretation methodologies, integration with clinical informatics systems, and essential IT infrastructure, including cloud-based solutions.
This book also thoroughly addresses practical topics essential to laboratory management, such as regulatory compliance, ethical frameworks, billing strategies, and reimbursement paradigms, helping directors navigate the evolving landscape of genomic diagnostics.
. Technical guidance: In-depth overview of sequencing platforms, chemistries, targeted capture methods, RNA sequencing, and methylome analysis for informed assay design and validation
. Bioinformatics workflows: Practical approaches for implementing pipelines to accurately detect and interpret genomic variants, structural changes, and complex genomic alterations
. Clinical implementation: Real-world applications for both constitutional and somatic disorders, including cancer diagnostics and precision medicine strategies
. Regulatory and ethical insights: Current regulatory requirements, ethical considerations, legal implications, and genomic reference standards pertinent to clinical practice.
. Operational and financial considerations: Guidance on billing, reimbursement, and operational integration of genomic medicine into clinical practice and electronic health records
Table of Contents:
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
