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• 32 min
  1. Gene copy number variation in human and primate evolution

  • Prof. James Sikela
• 43 min
  2. Quantitative CNV testing in molecular diagnostics

  • Prof. Dimitri J. Stavropoulos
• 21 min
  3. Ethical considerations in dealing with CNV information

  • Dr. Holly Tabor
• 38 min
  4. The future of CNVs: sequence based resolution and links to human disease 1

  • Prof. Evan Eichler
• 31 min
  5. The future of CNVs: sequence based resolution and links to human disease 2

  • Prof. Evan Eichler
• Archived Lectures *These may not cover the latest advances in the field
• 26 min
  6. Population genetics of structural variation

  • Dr. Don Conrad
• 47 min
  7. Databases for CNV in control and disease populations

  • Dr. Lars Feuk
• 45 min
  8. Copy number variation in mental retardation

  • Dr. Joris Veltman
• 35 min
  9. The case for offering all women amniocentesis and chromosomal microarray analysis

  • Prof. Arthur Beaudet
• 34 min
  10. Structural variants and susceptibility to common human disorders

  • Prof. Xavier Estivill
• 40 min
  11. Indels, CNVs and the spectrum of human genome variation

  • Prof. Samuel Levy
• 36 min
  12. Genome structure and expression

  • Prof. Alexandre Reymond
• 39 min
  13. Quantitative CNV testing in molecular diagnostics

  • Prof. Martin Somerville
• 40 min
  14. Copy number variation in neuropsychiatric disorders

  • Dr. Christian Marshall
• 41 min
  15. Copy number variation in association studies of human disease

  • Dr. Steven McCarroll
• 31 min
  16. Williams-Beuren syndrome locus: a model of CNV affecting gene dosage and phenotypes

  • Dr. Lucy Osborne
• 32 min
  17. CNVs in human genomes

  • Prof. Chris Ponting
• 64 min
  18. Genomic disorders: mechanisms for copy number variation and clinical implementation of high-resolution genome analysis

  • Prof. James Lupski
• 37 min
  19. Copy number variation

  • Prof. Steve Scherer
• 17 min
  20. Array comparative genomic hybridization to characterize copy number variation in the human genome

  • Dr. Nigel Carter
• 33 min
  21. Mendelian CNV mutations

  • Prof. Joris Vermeesch
• 44 min
  22. CNVs and clinical diagnosis

  • Dr. Brynn Levy

Printable Handouts

PDF

Navigable Slide Index

1. Introduction
2. Outline
3. Motivation
4. Population genetics of human CNV
5. Genotype-informed map of segregating CNV
6. Study of CNV of low-copy (0-6 copies) sequences
7. Ascertainment limited to medium-to-large CNVs
8. What fraction of CNV is due to inheritance?
9. Common polymorphisms or different variants?
10. Most common CNVs reflected polymorphisms
11. Fraction of CNV from rare and common variants
12. Most common CNPs are in LD with SNPs
13. LD between SNPs and CNPs
14. Haplotype sharing around rare CNVs
15. Algorithm for analyzing CNV in GWAS
16. Association frameworks for analyzing CNV
17. Association frameworks - de novo CNVs
18. Association frameworks- common CNPs
19. Association frameworks- rare CNVs
20. Data quality in CNV studies
21. Differential bias
22. Critical control analyses (1)
23. Critical control analyses (2)
24. Interpreting CNV-disease association findings
25. Association findings- de novo CNVs
26. Association findings- common CNPs
27. Association findings- rare CNVs
28. Concluding thoughts

Topics Covered

• Why study CNV in human disease?
• Population genetics of human CNV
• Low copy sequences
• Medium-to-large CNVs
• Inheritance vs. de novo mutation
• Common CNV regions
• Rare and common variants
• Most common CNPs are in LD with SNPs
• Haplotype sharing
• GWAS
• Association frameworks for analyzing CNVs
• Data quality in CNV studies
• Interpreting CNV-disease association findings

Links

Series:

• Copy Number Variation

Categories:

• Genetics & Epigenetics
• Methods

Talk Citation

Publication History

• Published on August 30, 2009
• Archived on May 28, 2025

Financial Disclosures

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