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• 32 min
  1. Gene copy number variation in human and primate evolution

  • Prof. James Sikela
• 43 min
  2. Quantitative CNV testing in molecular diagnostics

  • Prof. Dimitri J. Stavropoulos
• 21 min
  3. Ethical considerations in dealing with CNV information

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

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

  • Prof. Evan Eichler
• Archived Lectures *These may not cover the latest advances in the field
• 26 min
  6. Population genetics of structural variation

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

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

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

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

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

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

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

  • Prof. Martin Somerville
• 40 min
  14. Copy number variation in neuropsychiatric disorders

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

  • Dr. Steven McCarroll
• 31 min
  16. Williams-Beuren syndrome locus: a model of CNV affecting gene dosage and phenotypes

  • Dr. Lucy Osborne
• 32 min
  17. CNVs in human genomes

  • Prof. Chris Ponting
• 64 min
  18. Genomic disorders: mechanisms for copy number variation and clinical implementation of high-resolution genome analysis

  • Prof. James Lupski
• 37 min
  19. Copy number variation

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

  • Dr. Nigel Carter
• 33 min
  21. Mendelian CNV mutations

  • Prof. Joris Vermeesch
• 44 min
  22. CNVs and clinical diagnosis

  • Dr. Brynn Levy

Printable Handouts

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Navigable Slide Index

1. Introduction
2. Copy number variants (CNVs)
3. Structural variants
4. CNVs and gene dosage
5. CNV genes
6. Mechanisms of CNV formation
7. Genome reference sequence
8. Segmental duplications (SDs)
9. Where do human segmental duplications occur?
10. Allele frequencies
11. Positive selection on gene copy number
12. Positive selection - 'survival of the fittest'
13. Nucleotide substitution selective pressure
14. Recombination varies over a chromosome
15. Variation in the efficiency of selection (1)
16. Mutational biases
17. 5%/95% split
18. Non-random model of chromosome breakage
19. G+C-rich sequence
20. G+C content in CNVs and segmental duplications
21. Larger CNVs are richer in G+C
22. Mutational biases: summary
23. Positive selection
24. Positive selection on amino acid substitution
25. Positive selection on gene copy number
26. Positive selection: frequent or rare?
27. High gene density in CNVs/SDs
28. Elevated protein evolutionary (dN/dS) rates
29. Variation in the efficiency of selection (2)
30. Recombination rate and dN/dS relationship
31. Hill-Robertson interference
32. Effects of reduced purifying selection
33. Gene contents of CNVs
34. Disease gene contents of CNVs
35. General summary
36. Exceptions to prove the rule
37. CNV evolution: the way forward
38. Acknowledgements
39. References (1)
40. References (2)

Topics Covered

• Evolution of copy number variants
• Positive or negative selection acting on copy number variable genes
• Hill-Robertson interference and its effect on the efficacy of selection
• Prediction of genes more likely, when copy number variable, to contribute to human disease

Links

Series:

• Copy Number Variation

Categories:

• Genetics & Epigenetics

Talk Citation

Publication History

• Published on August 30, 2009
• Archived on May 28, 2025

Financial Disclosures

• Prof. Chris Ponting has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.