Statistical Human Genetics Methods and Protocols

About this book

Recent advances in genetics over the last quarter of a century, especially in molecular techniques, have dramatically reduced the cost of determining genetic markers and hence opened up a field of research that is increasingly helping to detect, prevent and/or cure many diseases that afflict humans. In Statistical Human Genetics: Methods and Protocols expert researchers in the field describe statistical methods and computer programs in the detail necessary to make them more easily accessible to the beginner analyzing data.

Written in the highly successful Methods in Molecular Biology series format, with examples of running the programs and interpreting the program outputs, the chapters include the kind of detailed description and implementation advice that is crucial for getting optimal results from human genetic data collected in the laboratory. Thorough and as much as possible intuitive, Statistical Human Genetics: Methods and Protocols aids scientists in understanding the computer programs and analytical procedures they need to use.

Contents

1. Genetic terminology
2. Identification of genotype errors
3. Detecting pedigree relationship errors
4. Identifying cryptic relationships
5. Estimating allele frequencies
6. Testing departure from Hardy-Weinberg proportions
7. Estimating disequilibrium coefficients
8. Detecting familial aggregation
9. Estimating heritability from twin studies
10. Estimating heritability from nuclear family and pedigree data
11. Correcting for ascertainment
12. Segregation analysis using the unified model
13. Design considerations for genetic linkage and association studies
14. Model-based linkage analysis of a quantitative trait
15. Model-based linkage analysis of a binary trait
16. Model-free linkage analysis of a quantitative trait
17. Model-free linkage analysis of a binary trait
18. Single marker association analysis for unrelated samples
19. Single marker family-based association analysis conditional on parental information
20. Single marker family-based association analysis not conditional on parental information
21. Allowing for population stratification in association analysis
22. Haplotype inference
23. Multi-SNP haplotype analysis methods for association analysis
24. Detecting rare variants
25. The analysis of ethnic mixtures
26. Identifying gene interaction networks
27. Structural equation modeling
28. Genotype calling for the Affymetrix platform
29. Genotype calling for the Illumina platform
30. Comparison of requirements and capabilities of major multipurpose software packages

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