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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 April 15, 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.