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- Special Designs
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1. Family-based association tests: introduction
- Dr. Christoph Lange
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3. Two-stage genome-wide association designs
- Dr. Andrew Skol
- Special Populations
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4. Admixture mapping
- Dr. Paul McKeigue
- Whole-Genome Studies: Types of Data
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5. QTL association mapping
- Prof. Bruce Weir
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6. Adjusting for population structure in genetic association studies
- Prof. David Balding
- Whole-Genome Studies 2: Methods
- Archived Lectures *These may not cover the latest advances in the field
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8. Family-based association tests: FBATs for various data types
- Dr. Christoph Lange
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10. Use of isolated populations: pitfalls and potential
- Dr. Leena Peltonen
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12. Detecting multiple associations in genome-wide studies
- Prof. Frank Dudbridge
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13. Genome scanning by composite likelihood
- Dr. Andrew Collins
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14. Multistage sampling for genetic studies
- Prof. Robert Elston
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16. A survey of multi-locus methods for analysis of large SNP datasets
- Mr. A. Geert Heidema
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17. Sequential analysis methods in genomic scans
- Prof. Michael Province
Printable Handouts
Navigable Slide Index
- Introduction
- Genome-wide association studies (GWAS)
- Testing untyped variation
- GWAS platforms
- Coverage measured by r-squared
- SNP annotation
- Non-synonymous SNPs coverage
- Multilocus disequilibrium (MD)
- Properties of MD
- Affymetrix 100K coverage
- Redundant information
- Pairwise vs. multi-locus LD
- Pairwise vs. multi-locus LD: example
- SNP coverage (1)
- Analytic strategy
- Interrogating the untyped variation: TUNA
- Example: rs4654893
- Inference issues
- The likelihood
- Implementation
- Marker selection
- Unobserved haplotypes
- Database construction
- Accuracy of TUNA
- SNP coverage (2)
- Output
- Alternative approaches
- Insertions and deletions
- Indirect methods
- Information on indels
- Indel example
- Summary
- References
Topics Covered
- Genome-wide association studies
- Methods for testing untyped variation
- Coverage of commonly used platforms
- Multilocus linkage disequilibrium
- TUNA: testing untyped alleles
- Accuracy of imputation
- Indirect methods for structural variation
Talk Citation
Nicolae, D. (2007, October 1). Information on untyped variation in genome-wide association studies [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved March 28, 2025, from https://doi.org/10.69645/HDNA7279.Export Citation (RIS)
Publication History
Financial Disclosures
- Dr. Dan Nicolae has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.