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Copy Number Variation
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    SPEAKER(S)

Dr. Ömer Gökçümen - Brigham and Women's Hospital and Harvard Medical School, USA

Ömer Gökçümen is the team leader of the Population Genetics and Evolution group, Molecular Genetic Research Unit in the Pathology Department of Brigham and Women's Hospital. He is also a research fellow at Harvard Medical School. He holds a BS from Bogazici University, Turkey and a PhD from the University of Pennsylvania, USA.

Talk Online Publication: Dec 2009

TOPICS COVERED IN COPY NUMBER VARIATION

Copy Number Variants (CNVs) - Widespread structural variation among healthy humans - Methods to detect CNVs - Current state of CNV research - Ongoing studies to characterize evolution and global distribution of CNVs

How to cite this talk:
Gökçümen, Ö. (2009), "Copy Number Variation", in Veeramah, K. (ed.), Introduction to Human Genetics: Fundamentals and latest advances, The Biomedical & Life Sciences Collection, Henry Stewart Talks Ltd, London (online at http://hstalks.com/bio)

Direct talk access link:
http://hstalks.com/lib.php?t=HST19.2529_1_2&c=252

    DETAILED SLIDE INDEX

1. Introduction
2. Course outline
3. Human genetic variation
4. Copy number variants
5. Extent of CNVs in the genome (1)
6. Extent of CNVs in the genome (2)
7. Mechanisms of CNV genesis
8. Dynamic definition of CNVs
9. Methods to study CNVs
10. Fluorescent in situ hybridization (FISH)
11. Different FISH techniques
12. Array comparative genomic hybridization (aCGH)
13. Interpretation of aCGH
14. Genome wide studies with aCGH
15. Next generation sequencing (1)
16. Next generation sequencing (2)
17. Paired-end mapping
18. Read depth analysis
19. Comparison of different technologies
20. Validation - quantitative PCR (qPCR)
21. Population genetics of CNVs
22. SNPs, genotypes and CNVs
23. CNV hotspots across primates
24. Non-allelic homologous recombination (NAHR)
25. Genomic impact of CNVs
26. Functional impact of CNVs
27. Amylase
28. Medical impact of CNVs
29. In conclusion
30. END