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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
- Human genetic variation - Science 2007
- Variations can be of any scale
- Landmarks in the study of human genetic variation
- Array CGH
- Copy number variations (CNV)
- CNVs - open questions (1)
- Mouse CNV catalog
- Mouse CNV catalog - HMM scoring method
- Mouse CNV catalog - CNV prediction
- Validation of HMM - NimbleGen CGH array
- CNV in MMU7
- CNVs - open questions (2)
- CNVs and expression
- Variance of expression levels (1)
- Correlation between CNV and expression
- Negative and positive correlation
- Hypothesis for CNV and expression correlation
- Variance of expression levels (2)
- CNV genes are less expressed than non CNV
- CNV genes are more specific than non CNV
- Brain genes are less likely to be CNV
- Proportion of expression variance and CNVs (1)
- WBS syndrome - CNV and expression
- CNVs and expression - papers
- Genes mapping 50 to 250 kb from CNVs
- The effect is seen up to 450kb from CNV region
- Variance of flanking genes - mechanisms
- The generation and use of recombinant inbreds
- Recombinant inbreds - variance of expression
- Conclusions
- Acknowledgements
Topics Covered
- Genome Structure and Expression
- Human genetic variation
- Variations can be of any scale
- Landmarks in the study of human genetic variation
- Array CGH
- Copy number variations (CNV)
- CNVs
- open questions
- Mouse CNV catalog
- Validation of HMM
- NimbleGen CGH array
- CNVs and expression
- Variance of expression levels
- Correlation between CNV and expression
- Hypothesis for CNV and expression correlation
- CNV genes are less expressed than non CNV
- CNV genes are more specific than non CNV
- Brain genes are less likely to be CNV
- Proportion of expression variance and CNVs
- WBS syndrome
- CNV and expression
- Variance of flanking genes
- mechanisms
- The generation and use of recombinant inbreds
Talk Citation
Reymond, A. (2009, November 19). Genome structure and expression [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved December 5, 2024, from https://doi.org/10.69645/HYQC7390.Export Citation (RIS)
Publication History
Financial Disclosures
- Prof. Alexandre Reymond has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.