• View the Talks
• 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

PDF

Navigable Slide Index

1. Introduction
2. Why focus on CNVs?
3. Outline
4. Existing guidelines on returning results
5. Should results be returned?
6. The NBAC report, 1999
7. Johnston and Kaye (2004) paper - UK Biobank
8. NIH GWAS points to consider
9. NHLBI working group 2006
10. Shalowitz and Miller
11. Ravitsky and Wilfond
12. Consensus and discussion
13. Returning CNV results
14. What about CNVs?
15. Arguments for returning CNV results
16. Rights of participant / ownership of data
17. Clinical significance
18. Reciprocity
19. Research imperative
20. Arguments against returning CNV results
21. Results are research only
22. Results don't have clinical significance
23. Phenotypic and genotypic heterogeneity
24. Avoiding CNV exceptionalism
25. Case study 1A: what results mean to families
26. Case study 1B: what results mean to families
27. Case study 2: clinical utility
28. Case study 3: right to know?
29. What we still need to know
30. Recommendations
31. Acknowledgements
32. References (1)
33. References (2)

Topics Covered

• Why focus on CNVs?
• Existing guidelines on returning results
• National Bioethics Advisory Commission
• UK Biobank
• NIH guidelines
• Arguments FOR returning CNV results
• Arguments AGAINST returning CNV results
• Avoiding CNV exceptionalism
• What results mean to families
• What we still need to know

Links

Series:

• Copy Number Variation

Categories:

• Genetics & Epigenetics

Talk Citation

Publication History

• Published on February 25, 2010

Financial Disclosures

• Dr. Holly Tabor has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.