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• 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. The array CGH revolution
3. Which imbalances are causal for the phenotype
4. Identifying recurrent imbalances and phenotypes
5. The larger the size, the more likely causal (1)
6. The larger the size, the more likely causal (2)
7. Population embedded CNVs are benign
8. GV Database: map all "benign" variation
9. Inherited imbalances - benign; de novo - causal
10. Mendelian CNVs: a paradigm shift in genetics
11. Mendelian CNVs: new wine in old bottles
12. Some conventions
13. More conventions
14. Autosomal recessive CNVs (1)
15. An example: Cohen syndrome
16. Spastic ataxia of Charlevoix-Saguenay
17. Inherited mutation, de novo deletion
18. Autosomal recessive CNVs (2)
19. Autosomal dominant CNVs (1)
20. Autosomal dominant CNVs (2)
21. An amplification linked to inherited microtia (1)
22. An amplification linked to inherited microtia (2)
23. Analysis of the disease
24. X-linked CNVs
25. MECP2 duplication
26. ATR-X syndrome
27. Imprinted CNVs (1)
28. Prader-Willi/Angelman region
29. Imprinted CNVs (2)
30. Variable expressivity and incomplete penetrance
31. 16p13.1 deletions and duplications
32. TAR and 1q21.1 syndromes
33. Conclusion
34. Acknowledgments

Topics Covered

• Copy number variation has now been shown to be a major cause of human genetic variation
• It has been implicated as the main cause of mental retardation disorders
• The boundary between benign and malignant copy number variations is blurring
• This is because certain CNVs can be benign but cause genetic disorders dependent on copy number state, sex and genetic background
• We coin them "Mendelian CNVs"
• An overview of autosomal recessive, dominant, X-linked and imprinted CNVs
• Diagnostic and clinical consequences

Links

Series:

• Copy Number Variation

Categories:

• Genetics & Epigenetics

Talk Citation

Publication History

• Published on August 30, 2009

Financial Disclosures

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