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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 structural variation
4. aCGH CNV detection
5. SNP array CNV detection
6. Current variation map
7. CNV characteristics
8. CNV and disease
9. CNV influence
10. CNV databases
11. Psychiatric genetics
12. Autism definition
13. Autism genetics
14. Autism genetics - evidence
15. Autism cytogenetic findings
16. Autism CNV findings
17. Study hypothesis
18. Study design
19. CNV data example
20. Study summary
21. CNV distribution in autism
22. SHANK3 experiments
23. SHANK3 results
24. PTCHD1 CNV
25. DPYD CNV
26. Multiple de novo events
27. MITF CNV
28. Phenotype revisited
29. Recurrent changes at 16p11.2
30. 16p11.2 loci
31. CNV in ASD - summary
32. Homozygosity mapping
33. Common pathways
34. Schizophrenia genetics
35. Schizophrenia CNV
36. Schizophrenia CNV - current status
37. CNV and variable phenotype
38. Multiple de novo loci
39. Overall summary
40. Future challenges
41. Acknowledgements
42. References (1)
43. References (2)
44. References (3)

Topics Covered

• Copy Number Variation (CNV) in the human genome
• General characteristics
• Detection methodologies
• Copy number variation and human disease
• Cataloguing and assessing the biological impact of a copy number variant
• The genetic basis of Autism spectrum disorder (ASD) and the role of CNVs in ASD etiology
• Variable neuropsychiatric phenotypes associated with copy number variation
• Diagnostic and interpretation challenges

Links

Series:

• Copy Number Variation

Categories:

• Genetics & Epigenetics
• Neuroscience

Therapeutic Areas:

• Neurology

Talk Citation

Publication History

• Published on August 30, 2009

Financial Disclosures

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