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1. Introduction
2. Course outline
3. Human genetic variation
4. Copy number variants
5. Extent of CNVs in the genome (1)
6. Extent of CNVs in the genome (2)
7. Mechanisms of CNV genesis
8. Dynamic definition of CNVs
9. Methods to study CNVs
10. Fluorescent in situ hybridization (FISH)
11. Different FISH techniques
12. Array comparative genomic hybridization (aCGH)
13. Interpretation of aCGH
14. Genome wide studies with aCGH
15. Next generation sequencing (1)
16. Next generation sequencing (2)
17. Paired-end mapping
18. Read depth analysis
19. Comparison of different technologies
20. Validation - quantitative PCR (qPCR)
21. Population genetics of CNVs
22. SNPs, genotypes and CNVs
23. CNV hotspots across primates
24. Non-allelic homologous recombination (NAHR)
25. Genomic impact of CNVs
26. Functional impact of CNVs
27. Amylase
28. Medical impact of CNVs
29. In conclusion

Topics Covered

• Copy Number Variants (CNVs)
• Widespread structural variation among healthy humans
• Methods to detect CNVs
• Current state of CNV research
• Ongoing studies to characterize evolution and global distribution of CNVs

Links

Series:

• Introduction to Human Genetics

Categories:

• Genetics & Epigenetics

Talk Citation

Publication History

• Published on December 28, 2009
• Archived on September 8, 2024

Financial Disclosures

• Dr. Ömer Gökçümen has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.