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1. Introduction
2. Genetic similarity between normal individuals
3. Genetic variation
4. Peripheral blood karyotype
5. M-FISH results on male infant
6. Rx-FISH results on male infant
7. Array CGH results on male infant
8. Comparative genomic hybridization (CGH)
9. Array CGH methodology
10. Spectral genomic inc. arrays
11. Sample preparation and data analysis
12. Clinical potential of array-CGH technology
13. Finding more imbalances than expected!
14. Controls
15. CNV - copy number variation
16. Potential sites of CNVs
17. Amylase gene locus
18. Number of copies of the amylase gene locus
19. Large-scale variation in the human genome
20. Underestimations of CNVs in the human genome
21. Structural variation of the human genome
22. In silico computational strategy
23. Sequence comparisons of 500,000 fosmid clones
24. Holes in the human genome (1)
25. Holes in the human genome (2)
26. International HapMap project (1)
27. Genotyping failures: Mendel failures
28. Genotyping failures: null genotypes
29. Genotyping failures: HW disequilibrium
30. "Failed" genotype assays
31. Common deletion variants ("haplosufficiency"?)
32. Database of genomic variants
33. CNVs and common/complex diseases
34. International HapMap project (2)
35. Gene expression at CNV loci
36. Low CCL3L1 - increased susceptibility to AIDS
37. Copy number polymorphism in Fcgr3
38. Patchwork people
39. SNP genotyping - often non-informative at CNV loci
40. Implications of CNVs to genetic diagnostics
41. What is normal?
42. The clinical importance of the definition of 'normal'
43. Pathogenic if de novo?
44. Some CNV regions have ethnic specificity
45. Mechanisms that may cause phenotypic variations
46. Inheritance of CNVs by array CGH assays (1)
47. Inheritance of CNVs by array CGH assays (2)
48. Genetic medicine
49. Toward a global CNV map
50. Copy number variation project
51. The whole genome tiling path BAC array
52. Number of copies observed
53. HapMap on Affymetrix 500k-EA
54. How many CNVs are truly out there?
55. CNVs in other mammalian species
56. Inbred mouse strains genomic polymorphism
57. CNVs in chimpanzees (Pan troglodytes)
58. CNVs in chimpanzees vs. CNVs in humans
59. CNV hotspots in humans and chimpanzees
60. Characterizing human genome structural variation
61. Acknowledgements

Topics Covered

• Genetic differences and similarities between normal individuals
• Single Nucleotide Polymorphisms (SNPs)
• Structural variants in the human genome
• Comparative Genomic Hybridization (CGH)
• Clinical genetic diagnostics
• Copy Number Variation (CNV)
• Overlapping
• Large-scale variation
• CNVs in the human genome is probably underestimated
• Fine-scale structural variation of the human genome
• In silico computational strategy
• Holes in the human genome
• Common deletion polymorphisms
• International HapMap Project
• Genotyping failures
• Common/complex diseases
• Gene expression
• Implications of CNVs to genetic diagnostics
• Toward a global CNV map for the human genome
• Copy Number Variation Project
• CNVs in other mammalian species

Links

Series:

• Using Bioinformatics in the Exploration of Genetic Diversity

Categories:

• Genetics & Epigenetics

Talk Citation

Lee, C. (2007, October 1). Widespread structural variations in the human genome [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved November 21, 2024, from https://doi.org/10.69645/GOMN3658.
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Publication History

• Published on October 1, 2007
• Archived on May 31, 2018

Financial Disclosures

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