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.
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.
Table of Contents
Section I: Methods1. Overview of Technical Aspects and Chemistries of Next-Generation Sequencing
2. Targeted Hybrid Capture Methods
3. Amplification-Based Methods
4. Emerging DNA Sequencing Technologies
5. Transcriptomics, RNA-Sequencing and Methylome Analysis
Section II: Bioinformatics
6. Base Calling, Read Mapping, and Coverage Analysis
7. Single Nucleotide Variant Detection Using Next Generation Sequencing
8. Insertions and Deletions (Indels)
9. Translocation Detection Using Next-Generation Sequencing
10. Copy Number Variant Detection Using Next-Generation Sequencing
11. Reference Databases for Disease Associations
12. Reporting of Clinical Genomics Test Results
13. Reporting Software
14. Constitutional Diseases: Target enrichment strategies for Targeted gene sequencing panels
15. Targeted Hybrid Capture for Inherited Disease Panels
16. Constitutional Disorders: Whole Exome and Whole Genome Sequencing
17. Somatic Diseases (Cancer): Amplification-Based Next-Generation Sequencing
18. Targeted Hybrid-Capture for Somatic Mutation Detection in the Clinic
19. Somatic Diseases (Cancer): Whole Exome and Whole Genome Sequencing
20. Assay Validation
21. Regulatory Considerations Related to Clinical Next Generation Sequencing
22. Genomic Reference Materials for Clinical Applications
23. Ethical Challenges in Clinical Genomics
24. Legal Issues
25. Billing and Reimbursement
Section III: Clinical Informatics and IT Infrastructure
26. Cloud Computing for Clinical NGS Testing
Section III: Interpretation
27. Bioinformatics of Long Read Sequencing
Section IV: Regulation, Reimbursement, and Legal Issues
28. Business aspect of Precision Genomic Medicine
29. Driving precision medicine through genomics-EHR integration
