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· 분류 : 외국도서 > 의학 > 유전학
· ISBN : 9780323900249
· 쪽수 : 562쪽
목차
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