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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

Feuk, L. (2009, August 30). Databases for CNV in control and disease populations [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved April 19, 2024, from https://hstalks.com/bs/1398/.
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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.