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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. Primate evolution
3. Human characteristics
4. Examples of "human-specific" genes
5. Mechanisms underlying genome evolution
6. Gene duplication and evolutionary change
7. Exceptional duplicated regions
8. Identifying evolutionarily recent duplicated sequen.
9. Interhominoid cDNA aCGH
10. Experimental design
11. Caryoscope image of interhominoid aCGH data
12. TreeView image of interhominoid aCGH data
13. Genes showing lineage-specific CN changes
14. Interhominoid cDNA aCGH results
15. Summary of human/great ape aCGH results
16. Regions with active copy number changes
17. Clusters of hominoid LS copy number changes
18. Changes in regions associated with diseases
19. Gorilla-specific increase in FGFR3 copy number
20. Data from additional five primate species
21. Human lineage-specific amplification of AQP7
22. Chromosome 9 view showing gaps / duplications
23. Orangutan-specific amplification of the CA1 gene
24. Copy number variation in HLA-related genes
25. Dating primate LS gene copy number changes
26. Identifying candidates for LS traits
27. The DUF1220 repeat unit
28. InterPro-predicted DUF1220-containing proteins
29. BLAT-based estimates of DUF1220 copy number
30. Sequences encoding DUF1220 domains
31. Summary
32. Primate aCGH caveats
33. Acknowledgements
34. Relevant Sikela lab publications
35. Additional references

Topics Covered

• Primate evolution
• Human characteristics
• Molecular mechanisms underling genome evolution
• Gene duplication and evolutionary change
• Interhominoid cDNA array-based comparative genomic hybridization
• Major clusters of hominoid lineage
• Primate gene copy number changes
• Primate lineage-specific gene copy number variation
• Primate aCGH caveats

Links

Series:

• Copy Number Variation

Categories:

• Genetics & Epigenetics

Talk Citation

Publication History

• Published on June 10, 2010

Financial Disclosures

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