Clinical Applications for Next-Generation Sequencing

Clinical Applications for Next Generation Sequencing provides readers with an outstanding postgraduate resource to learn about the translational use of NGS in clinical environments.

Rooted in both medical genetics and clinical medicine, the book fills the gap between state-of-the-art technology and evidence-based practice, providing an educational opportunity for users to advance patient care by transferring NGS to the needs of real-world patients.

The book builds an interface between genetic laboratory staff and clinical health workers to not only improve communication, but also strengthen cooperation. Users will find valuable tactics they can use to build a systematic framework for understanding the role of NGS testing in both common and rare diseases and conditions, from prenatal care, like chromosomal abnormalities, up to advanced age problems like dementia.

Fills the gap between state-of-the-art technology and evidence-based practiceProvides an educational opportunity which advances patient care through the transfer of NGS to real-world patient assessmentPromotes a practical tool that clinicians can apply directly to patient careIncludes a systematic framework for understanding the role of NGS testing in many common and rare diseases Presents evidence regarding the important role of NGS in current diagnostic strategies

1. Next Generation Sequencing
2. Basic Bio-Informatic Analysis of NGS Data
3. Analysis of Structural Chromosome Variants by NGS
4. NGS in Oncology
5. NGS in Hematology
6. NGS in Psychiatry and Neurology
7. NGS in Dysmorphology
8. NGS in Sight and Hearing Impairment
9. NGS as a Tool for Non-Invasive Prenatal Diagnostics
10. NGS in Cardiology
11. NGS – Pharmacogenomics, Individualized Treatment Protocols and Personalized Approach to the Patient
12. The Role of NGS in Genetic Counseling
13. NGS in Undiagnosed Genetically Based Diseases
14. NGS – Organizational and Financial Challenges
15. NGS Toward the Future in Clinical Medicine
16. Ethical and psychosocial issues in Whole Genome Sequencing (WGS) for newborns
17. Next generation sequencing- ethical and social issues (ELSI)