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 practice
• Provides an educational opportunity which advances patient care through the transfer of NGS to real-world patient assessment
• Promotes a practical tool that clinicians can apply directly to patient care
• Includes 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

Contenu

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)