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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
- Structural variation and disease
- Replication mechanism for CNV
- Baylor college of medicine array CGH team
- Detection of clinically relevant CNV
- Chromosomal microarray analysis (CMA)
- Design guideline
- Design example
- Genomic rearrangement mechanisms
- Genomic disorders concept
- 3 trends of genomic rearrangements
- Recurrent rearrangements in proximal 17p
- Breakpoint mapping in proximal 17p
- RAI1 point mutations
- Mechanisms for genomic rearrangements
- Non allelic homologous recombination (1)
- Non allelic homologous recombination (2)
- Lessons learned from NAHR
- Reciprocal recombinations
- Fork stalling template switching
- DNA replication model for genomic rearrangements
- Proposed FoSTeS model
- Complex genomic architecture
- NHEJ and FoSTeS
- Other non recurrent rearrangements
- Identification of chromosome abnormalities
- Analysis of MECP2 duplications in patients
- Complex MECP2 duplications
- Breakpoint junctions group around MECP2
- Low copy repeats around MECP2 gene (1)
- Low copy repeats around MECP2 gene (2)
- Potocki-Lupski syndrome
- First predicted microduplication syndrome
- dup(17)(p11.2p11.2) syndrome
- Complex 17p duplications
- Identifying smaller rearrangements due to FoSTeS
- Learning more about rearrangement mechanisms
- Junction analysis of A15 deletion in PMP22
- Characteristics of the nonrecurrent rearrangements
- Gene rearrangements consistent with FoSTeS
- Resolutions of complex genomic rearrangements
- The importance of the DNA sequences
- A proposed DNA replication model
- De novo rearrangements and birth defects
- Genomic rearrangements and sporadic disease
- De novo locus specific mutation rates
- Genomic imbalance as a potential etiology
- Clinical indications and detection rate
- Aneuploidy, Mendelian disease and complex traits
- Variation in Datura
- The Bar gene duplication
- 17p duplication
- A patient with a chromosomal syndrome
- Nerve conduction velocity
- Chromosomal syndromes & Mendelian disorders
- Molecular mechanisms for disease
- Genomic rearrangements and phenotypic traits
- Conclusions
- Acknowledgments
Topics Covered
- Rearrangements of the human genome as a significant source for genetic variation
- Genomic disorders
- Inherited and sporadic traits
- Rearrangements associated with genomic disorders can be recurrent, with breakpoint clusters resulting in a common sized deletion/duplication, or nonrecurrent and of different sizes
- Nonallelic homologous recombination (NAHR)
- Nonhomologous end-joining (NHEJ)
- Low-copy repeats (LCRs)
- Fork Stalling and Template Switching (FoSTeS)
- Rearrangements as an evolutionary function
- Gene dosage, position effects, unmasking of coding region mutations (cSNPs) and other functional SNPs
- De novo genomic rearrangements have been shown to cause both chromosomal and Mendelian disease, as well as sporadic traits
- Understanding of the extent to which genomic rearrangements, gene CNV, and/or gene dosage alterations are responsible for common and complex traits remains rudimentary
Talk Citation
Lupski, J. (2009, August 30). Genomic disorders: mechanisms for copy number variation and clinical implementation of high-resolution genome analysis [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved December 3, 2024, from https://doi.org/10.69645/NBWI3169.Export Citation (RIS)
Publication History
Financial Disclosures
- Prof. James Lupski has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
Genomic disorders: mechanisms for copy number variation and clinical implementation of high-resolution genome analysis
Published on August 30, 2009
64 min
A selection of talks on Genetics & Epigenetics
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