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Navigable Slide Index

1. Introduction
2. Outline
3. Genomic disorders
4. Nonallelic homologous recombination
5. Range of genomic variation
6. Key genomic disorders discovered before 2004
7. Genomic heteromorphisms
8. Cytogenetic detection of structural variants
9. Gene deletion/duplication syndromes prior to 2004
10. Current CNV repository data
11. Array-based methods for CNV discovery
12. Genome-wide methods for CNV discovery
13. Methods of CNV detection (1)
14. Multiplex PCR-based methods for CNV detection
15. Methods for CNV detection (2)
16. Determination of clinical relevance
17. Criteria for designation - location and confirmation
18. Criteria for designation - novel CNV
19. Criteria for designation - combinations of CNVs
20. Risk assessment of a CNV with family data
21. Risk assessment of a novel CNV (1)
22. Case study - DiGeorge syndrome
23. Case study - DiGeorge syndrome - qPCR array
24. Findings from this case study
25. Williams-Beuren syndrome (WBS) qPCR array
26. WBS region
27. FISH analysis of duplication
28. Expression of genes within the WBS region
29. Differences between WBS deletion and duplication
30. Microsatellite analysis of family members
31. Risk assessment of de novo 7q11.23 duplication
32. 7q11.23 duplication conclusions
33. Another novel CNV - GJA5 deletion
34. GJA5 quantitation
35. 1q21.1 deletion
36. 1q21.1 deletion CNV cases
37. Clinical findings for 1q21.1 CNV cases
38. Cardiac and cytogenetic analysis of del1q21.1
39. Summary of del1q21.1 case totals
40. 1q21 critical region genes
41. Congenital cataracts
42. Risk assessment of a novel CNV (2)
43. 1q21.1 deletion / duplication conclusions
44. Comprehensive analysis of del1q21.1
45. Analysis of dup1q21.1
46. Pedigrees of 1q21.1 deletion probands
47. Array CGH analysis
48. Del1q21.1 conclusions
49. CNVs in diagnostics
50. CNVs and disease
51. CNVs and predictive testing
52. Acknowledgements

Topics Covered

• Copy number variants, and the history of genomic rearrangements and disease
• Methods used for copy number variant detection
• Criteria to determine whether or not a copy number variant is associated with disease
• Application of these criteria in molecular diagnostics, with examples of novel copy number variants

Links

Series:

• Copy Number Variation

Categories:

• Genetics & Epigenetics
• Methods

Talk Citation

Somerville, M. (2009, August 30). Quantitative CNV testing in molecular diagnostics [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved April 15, 2025, from https://doi.org/10.69645/TRZU3116.
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Publication History

• Published on August 30, 2009
• Archived on July 28, 2021

Financial Disclosures

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