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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. Presentation outline
3. Cataloging human genetic variation
4. Spectrum of genetic variation
5. Definitions
6. Different types of variation databases
7. The database of genomic variants (DGV)
8. Aims of DGV
9. History of the DGV
10. What types of variants are in the database?
11. Increase in variation data
12. Current database content
13. CNV distribution across the genome
14. Who are the users of the database?
15. Search options in the database
16. Genome browser
17. Tracks in the browser
18. Detailed information page
19. Data download
20. Challenges in annotating structural variation
21. CNV calls are relative to a reference
22. Using a single sample as reference
23. Using a population reference
24. Using the assembly as reference (1)
25. Using the assembly as reference (2)
26. Reference: summary
27. Boundaries
28. Boundaries: clone based CGH
29. Biases in current CNV annotations
30. Boundaries: oligo arrays
31. Merging regions
32. CNVR and CNVE
33. Complex regions
34. Overview of databases
35. DECIPHER
36. How does DECIPHER work?
37. Information about each syndrome
38. Benefits and aims
39. Chromosome anomaly collection
40. ECARUCA
41. dbRIP and dbSNP
42. 1000 genomes project
43. Archival databases
44. Challenges going forward
45. Acknowledgements
46. Websites and references

Topics Covered

• Databases for CNV in control and disease populations
• Introduction to databases for capturing structural genetic variation
• An overview of the Database of Genomic Variants
• Challenges in annotating structural variation in light of imprecise data
• Rapid technology development
• Terminology used in the field
• Biases in existing data
• Overview of existing databases for copy number variation

Links

Series:

• Copy Number Variation

Categories:

• Genetics & Epigenetics
• Methods

Talk Citation

Publication History

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

Financial Disclosures

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