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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. Human genetic variation - Science 2007
3. Variations can be of any scale
4. Landmarks in the study of human genetic variation
5. Array CGH
6. Copy number variations (CNV)
7. CNVs - open questions (1)
8. Mouse CNV catalog
9. Mouse CNV catalog - HMM scoring method
10. Mouse CNV catalog - CNV prediction
11. Validation of HMM - NimbleGen CGH array
12. CNV in MMU7
13. CNVs - open questions (2)
14. CNVs and expression
15. Variance of expression levels (1)
16. Correlation between CNV and expression
17. Negative and positive correlation
18. Hypothesis for CNV and expression correlation
19. Variance of expression levels (2)
20. CNV genes are less expressed than non CNV
21. CNV genes are more specific than non CNV
22. Brain genes are less likely to be CNV
23. Proportion of expression variance and CNVs (1)
24. WBS syndrome - CNV and expression
25. CNVs and expression - papers
26. Genes mapping 50 to 250 kb from CNVs
27. The effect is seen up to 450kb from CNV region
28. Variance of flanking genes - mechanisms
29. The generation and use of recombinant inbreds
30. Recombinant inbreds - variance of expression
31. Conclusions
32. Acknowledgements

Topics Covered

• Genome Structure and Expression
• Human genetic variation
• Variations can be of any scale
• Landmarks in the study of human genetic variation
• Array CGH
• Copy number variations (CNV)
• CNVs
• open questions
• Mouse CNV catalog
• Validation of HMM
• NimbleGen CGH array
• CNVs and expression
• Variance of expression levels
• Correlation between CNV and expression
• Hypothesis for CNV and expression correlation
• CNV genes are less expressed than non CNV
• CNV genes are more specific than non CNV
• Brain genes are less likely to be CNV
• Proportion of expression variance and CNVs
• WBS syndrome
• CNV and expression
• Variance of flanking genes
• mechanisms
• The generation and use of recombinant inbreds

Links

Series:

• Copy Number Variation

Categories:

• Genetics & Epigenetics

Talk Citation

Publication History

• Published on November 19, 2009
• Archived on February 25, 2021

Financial Disclosures

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