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Navigable Slide Index

1. Introduction
2. Overview
3. Available data
4. Ascertainment
5. The "forces" of population genetics
6. Mutation-drift-selection balance
7. Structural variation mutation rates
8. CNV breakpoints - clues to mechanisms
9. Mutation rates, cont.
10. "Mutator" alleles
11. Secondary affects of SV
12. SNPs and CNVs have similar LD properties
13. Gene conversion moves variation
14. Size distribution of CNVs >100bp
15. Landscape of CNVs in humans
16. Population structure and differentiation
17. Population differentiation
18. Functional impact of CNVs in humans
19. Deletions are deleterious
20. Deletion gene biological process
21. Deletion gene molecular function
22. Mammals share patterns of CNV polymorphism
23. Dosage sensitivity
24. Selection in Drosophila
25. Malaria and CNV
26. The importance of duplicated genes
27. The fate of duplicated genes
28. Taming genome complexity
29. Conclusions

Topics Covered

• Importance of ascertainment
• Mutation processes, rates and mutation rate modifiers
• Interplay between structural variation and recombination and gene conversion
• Distribution of structural variants within and between human populations
• Shared patterns of SV polymorphism among species
• Functional constraint on CNVs
• Evidence for positive selection on CNVs

Links

Series:

• Copy Number Variation

Categories:

• Genetics & Epigenetics

Talk Citation

Publication History

• Published on August 30, 2009
• Archived on February 25, 2021

Financial Disclosures

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