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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. Disclosure
3. Array versus chromosomal analysis
4. CMA methodology
5. Analysis of trisomy 21 (Down syndrome disorder)
6. Targeted patient population
7. CMA V.6+ deletion - duplication syndromes
8. Detection of clinically significant abnormalities
9. Copy number variation (CNV)
10. Examples of clone plots
11. Copy number variation in parent and fetus
12. Disease analysis example
13. The disease as shown by array analysis
14. Deletions: Array and chromosomal analysis
15. Detection of exon deletions
16. What will CMA detect that karyotype will not?
17. What will karyotype detect that CMA will not?
18. What about prenatal use of arrays?
19. Different opinions (1)
20. Different opinions (2)
21. Search and destroy concern and eugenics
22. Autism and MR
23. Tests which should be abandoned
24. Corollary of these positions
25. Different opinions (3)
26. Different opinions (4)
27. What does ACOG recommend?
28. What might ACOG recommend?
29. Prenatal genome testing sparks debate
30. Misinformation in the journals
31. Important goals
32. Chances of serious abnormality
33. Baylor prenatal CMA clinical protocol
34. Experience with array-CGH in prenatal diagnosis
35. DNA yield is affected by gestational age
36. Recent experience
37. Detected copy number changes
38. Presumably benign finding example
39. Findings of uncertain significance (1)
40. 15q26.3 deletion
41. Findings of uncertain significance (2)
42. Recent case
43. Interpreting uncertain array data
44. Advantages of amnio and array analysis
45. Worst case hypothetical 1% chance
46. Two kinds of uncertainty
47. Families likely to accept
48. Families likely to decline
49. Nonpaternity concerns
50. The NIH study
51. Study design - patients
52. Concluding remarks
53. Acknowledgments
54. Contact details

Topics Covered

• Array-based copy number analysis (ABCNA)
• Chromosomal microarray analysis (CMA)
• CMA methodology
• Targeted patient population
• Detection of clinically significant abnormalities
• Copy number variation
• CMA vs. karyotype
• Prenatal use of arrays
• Microarray genetic screening
• Search and destroy concern and eugenics
• Tests which should be abandoned
• Prenatal CMA clinical protocol
• Array-CGH
• Findings of uncertain significance
• Recent cases
• Interpreting uncertain array data
• Advantages of amino and array analysis
• Two kinds of uncertainty
• Non-paternity concerns
• Study design

Links

Series:

• Copy Number Variation

Categories:

• Genetics & Epigenetics
• Methods

Therapeutic Areas:

• Gynaecology & Obstetrics

Talk Citation

Publication History

• Published on August 30, 2009
• Archived on February 25, 2021

Financial Disclosures

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