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1. Introduction
2. Structural variation and disease
3. Replication mechanism for CNV
4. Baylor college of medicine array CGH team
5. Detection of clinically relevant CNV
6. Chromosomal microarray analysis (CMA)
7. Design guideline
8. Design example
9. Genomic rearrangement mechanisms
10. Genomic disorders concept
11. 3 trends of genomic rearrangements
12. Recurrent rearrangements in proximal 17p
13. Breakpoint mapping in proximal 17p
14. RAI1 point mutations
15. Mechanisms for genomic rearrangements
16. Non allelic homologous recombination (1)
17. Non allelic homologous recombination (2)
18. Lessons learned from NAHR
19. Reciprocal recombinations
20. Fork stalling template switching
21. DNA replication model for genomic rearrangements
22. Proposed FoSTeS model
23. Complex genomic architecture
24. NHEJ and FoSTeS
25. Other non recurrent rearrangements
26. Identification of chromosome abnormalities
27. Analysis of MECP2 duplications in patients
28. Complex MECP2 duplications
29. Breakpoint junctions group around MECP2
30. Low copy repeats around MECP2 gene (1)
31. Low copy repeats around MECP2 gene (2)
32. Potocki-Lupski syndrome
33. First predicted microduplication syndrome
34. dup(17)(p11.2p11.2) syndrome
35. Complex 17p duplications
36. Identifying smaller rearrangements due to FoSTeS
37. Learning more about rearrangement mechanisms
38. Junction analysis of A15 deletion in PMP22
39. Characteristics of the nonrecurrent rearrangements
40. Gene rearrangements consistent with FoSTeS
41. Resolutions of complex genomic rearrangements
42. The importance of the DNA sequences
43. A proposed DNA replication model
44. De novo rearrangements and birth defects
45. Genomic rearrangements and sporadic disease
46. De novo locus specific mutation rates
47. Genomic imbalance as a potential etiology
48. Clinical indications and detection rate
49. Aneuploidy, Mendelian disease and complex traits
50. Variation in Datura
51. The Bar gene duplication
52. 17p duplication
53. A patient with a chromosomal syndrome
54. Nerve conduction velocity
55. Chromosomal syndromes & Mendelian disorders
56. Molecular mechanisms for disease
57. Genomic rearrangements and phenotypic traits
58. Conclusions
59. Acknowledgments

Topics Covered

• Rearrangements of the human genome as a significant source for genetic variation
• Genomic disorders
• Inherited and sporadic traits
• Rearrangements associated with genomic disorders can be recurrent, with breakpoint clusters resulting in a common sized deletion/duplication, or nonrecurrent and of different sizes
• Nonallelic homologous recombination (NAHR)
• Nonhomologous end-joining (NHEJ)
• Low-copy repeats (LCRs)
• Fork Stalling and Template Switching (FoSTeS)
• Rearrangements as an evolutionary function
• Gene dosage, position effects, unmasking of coding region mutations (cSNPs) and other functional SNPs
• De novo genomic rearrangements have been shown to cause both chromosomal and Mendelian disease, as well as sporadic traits
• Understanding of the extent to which genomic rearrangements, gene CNV, and/or gene dosage alterations are responsible for common and complex traits remains rudimentary

Links

Series:

• Copy Number Variation

Categories:

• Clinical Practice
• Genetics & Epigenetics

Talk Citation

Lupski, J. (2009, August 30). Genomic disorders: mechanisms for copy number variation and clinical implementation of high-resolution genome analysis [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved November 23, 2024, from https://doi.org/10.69645/NBWI3169.
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Publication History

• Published on August 30, 2009

Financial Disclosures

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