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- Basic Concepts
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1. Molecular structure of the human genome
- Prof. Jonathan Wolfe
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2. Introduction to mutation and disease
- Prof. Jonathan Wolfe
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3. Introduction to genetic diseases
- Prof. Jonathan Wolfe
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4. Historical introduction to human diversity I
- Prof. Dallas Swallow
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5. Historical introduction to human diversity II
- Prof. Dallas Swallow
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6. Introduction to cytogenetics 1
- Dr. Sioban SenGupta
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7. Introduction to cytogenetics 2
- Dr. Sioban SenGupta
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8. Introduction to cytogenetics 3
- Dr. Sioban SenGupta
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9. The Y-chromosome
- Prof. Mark Jobling
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10. Mitochondrial DNA, molecular genetics and human mitochondrial diseases
- Prof. Immo Scheffler
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11. Mechanisms of DNA repair by recombination
- Prof. James Haber
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12. Techniques utilized in molecular genetics
- Dr. Cecil Lewis
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13. Genome mapping
- Dr. Simon Gregory
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14. Copy number variation
- Dr. Ömer Gökçümen
- Genetics and Disease
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15. Genetic association studies
- Prof. David Balding
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16. Quantitative genetics and multifactorial inheritance
- Dr. Lara Bauman
- Human Evolutionary Genetics
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17. Population genetics
- Dr. Murray P. Cox
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18. Inference on human history through DNA
- Prof. Guido Barbujani
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19. Human adaptation
- Prof. Rasmus Nielsen
- Specialized Topics
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20. Accessing and using ENCODE data
- Prof. Peggy Farnham
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21. Pharmacogenetics
- Prof. Ann Daly
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22. Genetics in forensics
- Dr. Angel Carracedo
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23. The development and evolution of human gene therapy
- Prof. Theodore Friedmann
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24. Next generation sequencing technologies
- Dr. Krishna Veeramah
Printable Handouts
Navigable Slide Index
- Introduction
- Course outline
- Human genetic variation
- Copy number variants
- Extent of CNVs in the genome (1)
- Extent of CNVs in the genome (2)
- Mechanisms of CNV genesis
- Dynamic definition of CNVs
- Methods to study CNVs
- Fluorescent in situ hybridization (FISH)
- Different FISH techniques
- Array comparative genomic hybridization (aCGH)
- Interpretation of aCGH
- Genome wide studies with aCGH
- Next generation sequencing (1)
- Next generation sequencing (2)
- Paired-end mapping
- Read depth analysis
- Comparison of different technologies
- Validation - quantitative PCR (qPCR)
- Population genetics of CNVs
- SNPs, genotypes and CNVs
- CNV hotspots across primates
- Non-allelic homologous recombination (NAHR)
- Genomic impact of CNVs
- Functional impact of CNVs
- Amylase
- Medical impact of CNVs
- In conclusion
Topics Covered
- 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
Talk Citation
Gökçümen, Ö. (2009, December 28). Copy number variation [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved April 26, 2024, from https://hstalks.com/bs/1572/.Export Citation (RIS)
Publication History
Financial Disclosures
- Dr. Ömer Gökçümen has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.