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1. Copy number variation
- Prof. Steve Scherer
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3. CNVs in human genomes
- Prof. Chris Ponting
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4. Gene copy number variation in human and primate evolution
- Prof. James Sikela
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6. CNVs and clinical diagnosis
- Dr. Brynn Levy
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7. Quantitative CNV testing in molecular diagnostics
- Prof. Dimitri J. Stavropoulos
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8. Mendelian CNV mutations
- Prof. Joris Vermeesch
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9. Copy number variation in neuropsychiatric disorders
- Dr. Christian Marshall
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10. Copy number variation in association studies of human disease
- Dr. Steven McCarroll
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11. Ethical considerations in dealing with CNV information
- Dr. Holly Tabor
- Archived Lectures *These may not cover the latest advances in the field
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15. Population genetics of structural variation
- Dr. Don Conrad
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16. Databases for CNV in control and disease populations
- Dr. Lars Feuk
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17. Copy number variation in mental retardation
- Dr. Joris Veltman
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19. Structural variants and susceptibility to common human disorders
- Prof. Xavier Estivill
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20. Indels, CNVs and the spectrum of human genome variation
- Prof. Samuel Levy
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21. Genome structure and expression
- Prof. Alexandre Reymond
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22. Quantitative CNV testing in molecular diagnostics
- Prof. Martin Somerville
Printable Handouts
Navigable Slide Index
- Introduction
- Outline
- Motivation
- Population genetics of human CNV
- Genotype-informed map of segregating CNV
- Study of CNV of low-copy (0-6 copies) sequences
- Ascertainment limited to medium-to-large CNVs
- What fraction of CNV is due to inheritance?
- Common polymorphisms or different variants?
- Most common CNVs reflected polymorphisms
- Fraction of CNV from rare and common variants
- Most common CNPs are in LD with SNPs
- LD between SNPs and CNPs
- Haplotype sharing around rare CNVs
- Algorithm for analyzing CNV in GWAS
- Association frameworks for analyzing CNV
- Association frameworks - de novo CNVs
- Association frameworks- common CNPs
- Association frameworks- rare CNVs
- Data quality in CNV studies
- Differential bias
- Critical control analyses (1)
- Critical control analyses (2)
- Interpreting CNV-disease association findings
- Association findings- de novo CNVs
- Association findings- common CNPs
- Association findings- rare CNVs
- 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
Talk Citation
McCarroll, S. (2009, August 30). Copy number variation in association studies of human disease [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved November 8, 2024, from https://doi.org/10.69645/KCYQ4311.Export Citation (RIS)
Publication History
Financial Disclosures
- Dr. Steven McCarroll has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.