Printable Handouts

PDF

Navigable Slide Index

1. Introduction
2. Outline
3. Motivation
4. Population genetics of human CNV
5. Genotype-informed map of segregating CNV
6. Study of CNV of low-copy (0-6 copies) sequences
7. Ascertainment limited to medium-to-large CNVs
8. What fraction of CNV is due to inheritance?
9. Common polymorphisms or different variants?
10. Most common CNVs reflected polymorphisms
11. Fraction of CNV from rare and common variants
12. Most common CNPs are in LD with SNPs
13. LD between SNPs and CNPs
14. Haplotype sharing around rare CNVs
15. Algorithm for analyzing CNV in GWAS
16. Association frameworks for analyzing CNV
17. Association frameworks - de novo CNVs
18. Association frameworks- common CNPs
19. Association frameworks- rare CNVs
20. Data quality in CNV studies
21. Differential bias
22. Critical control analyses (1)
23. Critical control analyses (2)
24. Interpreting CNV-disease association findings
25. Association findings- de novo CNVs
26. Association findings- common CNPs
27. Association findings- rare CNVs
28. Concluding thoughts

Topics Covered

• Why study CNV in human disease?
• Population genetics of human CNV
• Low copy sequences
• Medium-to-large CNVs
• Inheritance vs. de novo mutation
• Common CNV regions
• Rare and common variants
• Most common CNPs are in LD with SNPs
• Haplotype sharing
• GWAS
• Association frameworks for analyzing CNVs
• Data quality in CNV studies
• Interpreting CNV-disease association findings

Links

Series:

• Copy Number Variation

Categories:

• Genetics & Epigenetics
• Methods

Talk Citation

McCarroll, S. (2009, August 30). Copy number variation in association studies of human disease [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved December 26, 2024, from https://doi.org/10.69645/KCYQ4311.
Export Citation (RIS)

Publication History

• Published on August 30, 2009

Financial Disclosures

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