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Navigable Slide Index

1. Introduction
2. Outline
3. Genomic structural variation
4. aCGH CNV detection
5. SNP array CNV detection
6. Current variation map
7. CNV characteristics
8. CNV and disease
9. CNV influence
10. CNV databases
11. Psychiatric genetics
12. Autism definition
13. Autism genetics
14. Autism genetics - evidence
15. Autism cytogenetic findings
16. Autism CNV findings
17. Study hypothesis
18. Study design
19. CNV data example
20. Study summary
21. CNV distribution in autism
22. SHANK3 experiments
23. SHANK3 results
24. PTCHD1 CNV
25. DPYD CNV
26. Multiple de novo events
27. MITF CNV
28. Phenotype revisited
29. Recurrent changes at 16p11.2
30. 16p11.2 loci
31. CNV in ASD - summary
32. Homozygosity mapping
33. Common pathways
34. Schizophrenia genetics
35. Schizophrenia CNV
36. Schizophrenia CNV - current status
37. CNV and variable phenotype
38. Multiple de novo loci
39. Overall summary
40. Future challenges
41. Acknowledgements
42. References (1)
43. References (2)
44. References (3)

Topics Covered

• Copy Number Variation (CNV) in the human genome
• General characteristics
• Detection methodologies
• Copy number variation and human disease
• Cataloguing and assessing the biological impact of a copy number variant
• The genetic basis of Autism spectrum disorder (ASD) and the role of CNVs in ASD etiology
• Variable neuropsychiatric phenotypes associated with copy number variation
• Diagnostic and interpretation challenges

Links

Series:

• Copy Number Variation

Categories:

• Genetics & Epigenetics
• Neuroscience

Therapeutic Areas:

• Neurology

Talk Citation

Marshall, C. (2009, August 30). Copy number variation in neuropsychiatric disorders [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved December 26, 2024, from https://doi.org/10.69645/JTXE8150.
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Publication History

• Published on August 30, 2009

Financial Disclosures

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