• Basic Concepts
• 19 min
  1. Molecular structure of the human genome

  • Prof. Jonathan Wolfe
• 31 min
  2. Introduction to mutation and disease

  • Prof. Jonathan Wolfe
• 26 min
  3. Introduction to genetic diseases

  • Prof. Jonathan Wolfe
• 26 min
  4. Historical introduction to human diversity I

  • Prof. Dallas Swallow
• 28 min
  5. Historical introduction to human diversity II

  • Prof. Dallas Swallow
• 23 min
  6. Introduction to cytogenetics 1

  • Dr. Sioban SenGupta
• 15 min
  7. Introduction to cytogenetics 2

  • Dr. Sioban SenGupta
• 16 min
  8. Introduction to cytogenetics 3

  • Dr. Sioban SenGupta
• 42 min
  9. The Y-chromosome

  • Prof. Mark Jobling
• 42 min
  10. Mitochondrial DNA, molecular genetics and human mitochondrial diseases

  • Prof. Immo Scheffler
• 66 min
  11. Mechanisms of DNA repair by recombination

  • Prof. James Haber
• 26 min
  12. Techniques utilized in molecular genetics

  • Dr. Cecil Lewis
• 36 min
  13. Genome mapping

  • Dr. Simon Gregory
• 35 min
  14. Copy number variation

  • Dr. Ömer Gökçümen
• Genetics and Disease
• 45 min
  15. Genetic association studies

  • Prof. David Balding
• 42 min
  16. Quantitative genetics and multifactorial inheritance

  • Dr. Lara Bauman
• Human Evolutionary Genetics
• 34 min
  17. Population genetics

  • Dr. Murray P. Cox
• 59 min
  18. Inference on human history through DNA

  • Prof. Guido Barbujani
• 37 min
  19. Human adaptation

  • Prof. Rasmus Nielsen
• Specialized Topics
• 44 min
  20. Accessing and using ENCODE data

  • Prof. Peggy Farnham
• 44 min
  21. Pharmacogenetics

  • Prof. Ann Daly
• 33 min
  22. Genetics in forensics

  • Dr. Angel Carracedo
• 29 min
  23. The development and evolution of human gene therapy

  • Prof. Theodore Friedmann
• 33 min
  24. Next generation sequencing technologies

  • Dr. Krishna Veeramah

Printable Handouts

PDF

Navigable 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

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

Links

Series:

• Introduction to Human Genetics

Categories:

• Genetics & Epigenetics

Talk Citation

Publication History

• Published on December 28, 2009
• Archived on September 8, 2024

Financial Disclosures

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