Clinical Genomics

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

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• Genética médica

Next-Generation Sequencing; Clinical genomics; genome sequencing; Clinical Genome Sequencing; Hybrid Capture Methods; Amplification-Based Methods; DNA Sequencing Technologies; RNA-Sequencing; Methylome Analysis; Single Nucleotide Variant Detection Using Next Generation Sequencing; Indels; Translocation Detection; Next-Generation Sequencing; Structural Variant Detection; Copy Number Variant Detection Using Next-Generation Sequencing; Human Reference Genome; Clinical Informatics and IT Infrastructure; Genome Data Storage; Genomic Data Security; Genomic Data Privacy; Cloud Computing and Genomics; Clinical NGS; Genomics Test Results; Somatic Mutation Detection; Whole Exome; Whole Genome Sequencing; Assay Validation; Billing and Genomic Medicine