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Printable Handouts
Navigable Slide Index
- Introduction
- Outline
- Genomic disorders
- Nonallelic homologous recombination
- Range of genomic variation
- Key genomic disorders discovered before 2004
- Genomic heteromorphisms
- Cytogenetic detection of structural variants
- Gene deletion/duplication syndromes prior to 2004
- Current CNV repository data
- Array-based methods for CNV discovery
- Genome-wide methods for CNV discovery
- Methods of CNV detection (1)
- Multiplex PCR-based methods for CNV detection
- Methods for CNV detection (2)
- Determination of clinical relevance
- Criteria for designation - location and confirmation
- Criteria for designation - novel CNV
- Criteria for designation - combinations of CNVs
- Risk assessment of a CNV with family data
- Risk assessment of a novel CNV (1)
- Case study - DiGeorge syndrome
- Case study - DiGeorge syndrome - qPCR array
- Findings from this case study
- Williams-Beuren syndrome (WBS) qPCR array
- WBS region
- FISH analysis of duplication
- Expression of genes within the WBS region
- Differences between WBS deletion and duplication
- Microsatellite analysis of family members
- Risk assessment of de novo 7q11.23 duplication
- 7q11.23 duplication conclusions
- Another novel CNV - GJA5 deletion
- GJA5 quantitation
- 1q21.1 deletion
- 1q21.1 deletion CNV cases
- Clinical findings for 1q21.1 CNV cases
- Cardiac and cytogenetic analysis of del1q21.1
- Summary of del1q21.1 case totals
- 1q21 critical region genes
- Congenital cataracts
- Risk assessment of a novel CNV (2)
- 1q21.1 deletion / duplication conclusions
- Comprehensive analysis of del1q21.1
- Analysis of dup1q21.1
- Pedigrees of 1q21.1 deletion probands
- Array CGH analysis
- Del1q21.1 conclusions
- CNVs in diagnostics
- CNVs and disease
- CNVs and predictive testing
- Acknowledgements
Topics Covered
- Copy number variants, and the history of genomic rearrangements and disease
- Methods used for copy number variant detection
- Criteria to determine whether or not a copy number variant is associated with disease
- Application of these criteria in molecular diagnostics, with examples of novel copy number variants
Talk Citation
Somerville, M. (2009, August 30). Quantitative CNV testing in molecular diagnostics [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved December 5, 2024, from https://doi.org/10.69645/TRZU3116.Export Citation (RIS)
Publication History
Financial Disclosures
- Prof. Martin Somerville has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.