• View the Talks
• 37 min
  1. Copy number variation

  • Prof. Steve Scherer
• 17 min
  2. Array comparative genomic hybridization to characterize copy number variation in the human genome

  • Dr. Nigel Carter
• 32 min
  3. CNVs in human genomes

  • Prof. Chris Ponting
• 32 min
  4. Gene copy number variation in human and primate evolution

  • Prof. James Sikela
• 64 min
  5. Genomic disorders: mechanisms for copy number variation and clinical implementation of high-resolution genome analysis

  • Prof. James Lupski
• 44 min
  6. CNVs and clinical diagnosis

  • Dr. Brynn Levy
• 43 min
  7. Quantitative CNV testing in molecular diagnostics

  • Prof. Dimitri J. Stavropoulos
• 33 min
  8. Mendelian CNV mutations

  • Prof. Joris Vermeesch
• 40 min
  9. Copy number variation in neuropsychiatric disorders

  • Dr. Christian Marshall
• 41 min
  10. Copy number variation in association studies of human disease

  • Dr. Steven McCarroll
• 21 min
  11. Ethical considerations in dealing with CNV information

  • Dr. Holly Tabor
• 38 min
  12. The future of CNVs: sequence based resolution and links to human disease 1

  • Prof. Evan Eichler
• 31 min
  13. The future of CNVs: sequence based resolution and links to human disease 2

  • Prof. Evan Eichler
• 31 min
  14. Williams-Beuren syndrome locus: a model of CNV affecting gene dosage and phenotypes

  • Dr. Lucy Osborne
• Archived Lectures *These may not cover the latest advances in the field
• 26 min
  15. Population genetics of structural variation

  • Dr. Don Conrad
• 47 min
  16. Databases for CNV in control and disease populations

  • Dr. Lars Feuk
• 45 min
  17. Copy number variation in mental retardation

  • Dr. Joris Veltman
• 35 min
  18. The case for offering all women amniocentesis and chromosomal microarray analysis

  • Prof. Arthur Beaudet
• 34 min
  19. Structural variants and susceptibility to common human disorders

  • Prof. Xavier Estivill
• 40 min
  20. Indels, CNVs and the spectrum of human genome variation

  • Prof. Samuel Levy
• 36 min
  21. Genome structure and expression

  • Prof. Alexandre Reymond
• 39 min
  22. Quantitative CNV testing in molecular diagnostics

  • Prof. Martin Somerville

Printable Handouts

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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.