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.