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Printable Handouts
Navigable Slide Index
- Introduction
- Phenotypic differences
- DNA polymorphisms
- Single nucleotide polymorphisms - SNPs
- Questions to be discussed
- Correlation structure of common SNPs
- Human whole-genome high-density arrays
- Amplifying the human genome
- Detection of DNA variation
- SNP markers across the genome
- Relationships between common SNPs
- Experimental design
- Characterisitics of 1.6 million SNPs
- Linkage disequilibrium - LD
- LD bin structure of the CFTR gene
- Most SNPs are in LD bins
- HapMap phase II
- Summary
- Deletion polymorphisms
- Intermediate deletions
- Experimental design
- Identification of intermediate deletions
- Percent conformance
- Intermediate deletion polymorphisms in humans
- Some deletions are rare
- Some deletions are common
- Some deletions may have functional consequences
- Summary of results
- Frequency spectrum for intermediate deletions
- Allele frequency spectrum
- Intermediate deletions in 3 genotyped populations
- LD patterns (1)
- LD patterns (2)
- Summary
- Acknowledgements
Topics Covered
- DNA polymorphisms in the human genome
- Identification of a large number of common Single Nucleotide Polymorphisms (SNPs)
- The relationship of these common SNPs in linkage disequilibrium bins
- The majority of common deletion polymorphisms in humans are in linkage disequilibrium with common SNPs
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Talk Citation
Frazer, K. (2007, October 1). Human genome variation [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved December 27, 2024, from https://doi.org/10.69645/WOLG7854.Export Citation (RIS)
Publication History
Financial Disclosures
- Dr. Kelly Frazer has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.