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- View the Talks
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37 min
1. Copy number variation- Prof. Steve Scherer
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17 min
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32 min
3. CNVs in human genomes- Prof. Chris Ponting
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32 min
4. Gene copy number variation in human and primate evolution- Prof. James Sikela
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64 min
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44 min
6. CNVs and clinical diagnosis- Dr. Brynn Levy
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43 min
7. Quantitative CNV testing in molecular diagnostics- Prof. Dimitri J. Stavropoulos
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33 min
8. Mendelian CNV mutations- Prof. Joris Vermeesch
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40 min
9. Copy number variation in neuropsychiatric disorders- Dr. Christian Marshall
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41 min
10. Copy number variation in association studies of human disease- Dr. Steven McCarroll
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21 min
11. Ethical considerations in dealing with CNV information- Dr. Holly Tabor
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38 min
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31 min
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31 min
- Archived Lectures *These may not cover the latest advances in the field
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26 min
15. Population genetics of structural variation- Dr. Don Conrad
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47 min
16. Databases for CNV in control and disease populations- Dr. Lars Feuk
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45 min
17. Copy number variation in mental retardation- Dr. Joris Veltman
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35 min
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34 min
19. Structural variants and susceptibility to common human disorders- Prof. Xavier Estivill
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40 min
20. Indels, CNVs and the spectrum of human genome variation- Prof. Samuel Levy
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36 min
21. Genome structure and expression- Prof. Alexandre Reymond
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39 min
22. Quantitative CNV testing in molecular diagnostics- Prof. Martin Somerville
Printable Handouts
Navigable Slide Index
- Introduction
- Presentation outline
- Cataloging human genetic variation
- Spectrum of genetic variation
- Definitions
- Different types of variation databases
- The database of genomic variants (DGV)
- Aims of DGV
- History of the DGV
- What types of variants are in the database?
- Increase in variation data
- Current database content
- CNV distribution across the genome
- Who are the users of the database?
- Search options in the database
- Genome browser
- Tracks in the browser
- Detailed information page
- Data download
- Challenges in annotating structural variation
- CNV calls are relative to a reference
- Using a single sample as reference
- Using a population reference
- Using the assembly as reference (1)
- Using the assembly as reference (2)
- Reference: summary
- Boundaries
- Boundaries: clone based CGH
- Biases in current CNV annotations
- Boundaries: oligo arrays
- Merging regions
- CNVR and CNVE
- Complex regions
- Overview of databases
- DECIPHER
- How does DECIPHER work?
- Information about each syndrome
- Benefits and aims
- Chromosome anomaly collection
- ECARUCA
- dbRIP and dbSNP
- 1000 genomes project
- Archival databases
- Challenges going forward
- Acknowledgements
- Websites and references
Topics Covered
- Databases for CNV in control and disease populations
- Introduction to databases for capturing structural genetic variation
- An overview of the Database of Genomic Variants
- Challenges in annotating structural variation in light of imprecise data
- Rapid technology development
- Terminology used in the field
- Biases in existing data
- Overview of existing databases for copy number variation
Talk Citation
Feuk, L. (2009, August 30). Databases for CNV in control and disease populations [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved December 26, 2024, from https://doi.org/10.69645/AHRB2963.Export Citation (RIS)
Publication History
Financial Disclosures
- Dr. Lars Feuk has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
