Clinical Genomics: A Guide to Clinical Next Generation Sequencing

by Shashikant Kulkarni (Editor), Somak Roy (Editor)

Overview

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.

Product Details

ISBN-13:	9780323900249
Publisher:	Elsevier Science
Publication date:	11/24/2025
Edition description:	2nd ed.
Pages:	562
Product dimensions:	8.50(w) x 10.88(h) x (d)

About the Author

Dr. Shashikant Kulkarni is the Head of Clinical Genomics, Genomics and Pathology Services and also the Director of Cytogenomics and Molecular Pathology at Washington University School of Medicine. In addition, he is Associate Professor of Pathology and Immunology, Pediatrics, and Genetics. His lab's principle research interest is delineation of novel genomic structural and single nucleotide variants in cancer.

Dr. Somak Roy is an Assistant Professor, in the division of Molecular and Genomic Pathology, at the University of Pittsburgh Medical Center, in Pittsburgh, PA. He is also Director of Molecular Informatics and the Director of the MGP Fellowship Program, and Associate Laboratory Director of the Division of Molecular and Genomic Pathology. Dr. Roy's research is focused on understanding mechanisms of urothelial carcinogenesis and metastasis using next generation sequencing and microarray technologies. He also develops biomedical informatics solutions for optimizing clinical laboratory operations and quality management.

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

What People are Saying About This

From the Publisher

Reviews high throughput genomic sequencing for diagnosis, prognosis and precision management of inherited and somatic disorders, enabling genomic medicine

Editorial Reviews

"...presents key bioinformatic challenges and the 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." —Anticancer Research, February 2015

From the Publisher