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Life Sciences - Animal Sciences | Statistical Human Genetics - Methods and Protocols

Statistical Human Genetics

Methods and Protocols

Series: Methods in Molecular Biology, Vol. 850

Elston, Robert C., Satagopan, Jaya M., Sun, Shuying (Eds.)

2012, XI, 564p. 103 illus., 13 illus. in color.

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  • Demonstrates methods in a wide variety of computer programs
  • Provides step-by-step detail essential for reproducible results
  • Contains key notes and implementation advice from the experts

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.

Content Level » Professional/practitioner

Keywords » computer output - computer programs - genetic markers - human genetics - molecular techniques - programs packages - software packages - statistical geneticist

Related subjects » Animal Sciences - Human Genetics

Table of 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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