• View the Talks
• 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. Complex genetic diseases
3. Genome variability is behind biological differences
4. Genetic basis of complex genetic diseases
5. Genome wide association studies
6. Human genome variation
7. The study of genomic variations
8. Type of structural variants
9. Database of genomic variants
10. Detection CNVs by WGTP and SNP arrays
11. CNV algorithms comparison
12. CNV analyses and algorithm testing
13. Detection of SNPs from different illumina platforms
14. New generation CNV studies
15. Next generation sequencing
16. Pair end mapping
17. GSTM/GSTT CNV and breakpoints
18. Polymorphic inversions in humans
19. Effects of rare CNVs on complex disorders
20. Effects of common CNVs on complex disorders
21. FCGR3, FCGR2 CNV and autoimmune disorders
22. C4 CNVs in systemic lupus erythematosus
23. Common CNVs in common disorders
24. Psoriasis
25. Multifactorial aetiology of Psoriasis
26. Susceptibility loci for Psoriasis
27. Identification of CNVs determinants in Psoriasis
28. Dosage genomic changes identified in Psoriasis
29. Association of gene deletion with Psoriasis
30. Replication in four independent sample sets
31. Linkage disequilibrium across the LCE cluster
32. SNPs spanning over 100kb are in LD with deletion
33. rs4112788 is a proxy of the deletion
34. Association of rs4112788 with psoriasis
35. Genetic interaction analysis in Psoriasis (1)
36. Genetic interaction analysis in Psoriasis (2)
37. Interaction analysis between LCE and HLA genes
38. Genetic interaction analysis in Psoriasis (3)
39. What are the consequences of the deletion?
40. Expression levels depend on copy number
41. Patterns of expression of LCE3C in the epidermis
42. Evaluating expression levels in artificial lesions
43. Expression levels in injured and non injured skin
44. Expression levels with respect to LCE SNPs
45. Summary of CNVs in Psoriasis
46. New concept in Psoriasis pathophysiology
47. Replication of the results in a genome-wide study
48. The role of structural variation in complex disorders
49. Consequences of structural variation in disease
50. Thank you

Topics Covered

• Complex genetic diseases
• Genome-wide association studies
• Human genome variation
• Type of structural variants
• Detection of CNVs
• CNV algorithms
• Next generation sequencing
• Pain end mapping
• Effects of rare CNVs on complex disorders
• Common CNV in common disorders
• LCE3C and LCE3E
• Copy number variants in psoriasis
• Structural variation in human disease

Links

Series:

• Copy Number Variation

Categories:

• Clinical Practice
• Genetics & Epigenetics
• Methods

Talk Citation

Publication History

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

Financial Disclosures

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