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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. Outline
3. Genomic disorders
4. Nonallelic homologous recombination
5. Range of genomic variation
6. Key genomic disorders discovered before 2004
7. Genomic heteromorphisms
8. Cytogenetic detection of structural variants
9. Gene deletion/duplication syndromes prior to 2004
10. Current CNV repository data
11. Array-based methods for CNV discovery
12. Genome-wide methods for CNV discovery
13. Methods of CNV detection (1)
14. Multiplex PCR-based methods for CNV detection
15. Methods for CNV detection (2)
16. Determination of clinical relevance
17. Criteria for designation - location and confirmation
18. Criteria for designation - novel CNV
19. Criteria for designation - combinations of CNVs
20. Risk assessment of a CNV with family data
21. Risk assessment of a novel CNV (1)
22. Case study - DiGeorge syndrome
23. Case study - DiGeorge syndrome - qPCR array
24. Findings from this case study
25. Williams-Beuren syndrome (WBS) qPCR array
26. WBS region
27. FISH analysis of duplication
28. Expression of genes within the WBS region
29. Differences between WBS deletion and duplication
30. Microsatellite analysis of family members
31. Risk assessment of de novo 7q11.23 duplication
32. 7q11.23 duplication conclusions
33. Another novel CNV - GJA5 deletion
34. GJA5 quantitation
35. 1q21.1 deletion
36. 1q21.1 deletion CNV cases
37. Clinical findings for 1q21.1 CNV cases
38. Cardiac and cytogenetic analysis of del1q21.1
39. Summary of del1q21.1 case totals
40. 1q21 critical region genes
41. Congenital cataracts
42. Risk assessment of a novel CNV (2)
43. 1q21.1 deletion / duplication conclusions
44. Comprehensive analysis of del1q21.1
45. Analysis of dup1q21.1
46. Pedigrees of 1q21.1 deletion probands
47. Array CGH analysis
48. Del1q21.1 conclusions
49. CNVs in diagnostics
50. CNVs and disease
51. CNVs and predictive testing
52. Acknowledgements

Topics Covered

• Copy number variants, and the history of genomic rearrangements and disease
• Methods used for copy number variant detection
• Criteria to determine whether or not a copy number variant is associated with disease
• Application of these criteria in molecular diagnostics, with examples of novel copy number variants

Links

Series:

• Copy Number Variation

Categories:

• Genetics & Epigenetics
• Methods

Talk Citation

Publication History

• Published on August 30, 2009
• Archived on July 28, 2021

Financial Disclosures

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