• 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

PDF

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.