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- Introduction to Genetic Diversity
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1. The sources of genomic diversity
- Dr. George Nelson
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2. Bioinformatics tools in conservation biology
- Dr. Mahmood Shivji
- Mr. Vincent Richards
- Populations, Samples and Biological Databases
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3. Specimen banking: saving for the future
- Ms. Elaine Gunter
- Bioinformatics and Genome Analysis
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4. Accessing and using ENCODE data
- Prof. Peggy Farnham
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5. Information content in sequences and its relation to protein structure prediction
- Dr. Rosemarie Swanson
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6. Pattern discovery in bioinformatics
- Prof. Giri Narasimhan
- Human Disease
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7. Genes in common diseases
- Prof. Jennie Lou
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8. The impact of genomic architecture and diversity on infectious diseases
- Prof. Vincent Chow
- Dr. Meena Sakharkar
- Archived Lectures *These may not cover the latest advances in the field
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10. Unity and diversity in microbial genomes
- Dr. Kishore Sakharkar
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13. Widespread structural variations in the human genome
- Dr. Charles Lee
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14. Human genome variation
- Dr. Kelly Frazer
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15. Human genetic variation and therapeutic development
- Dr. Sally John
- Dr. Nick Davies
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17. Population genetics studies in Africa: curiosity and challenges
- Prof. Himla Soodyall
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18. Sample collection for human genetics
- Dr. Michael Dean
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
Links
Series:
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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 March 21, 2025, 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.