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BMC Proc. 2007;1 Suppl 1:S55. Epub 2007 Dec 18.

Comparison of haplotyping methods using families and unrelated individuals on simulated rheumatoid arthritis data.

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  • 1Department of Electrical Engineering and Computer Science, Case Western Reserve University, 10900 Euclid Avenue, Cleveland, Ohio 44106, USA. xin.li2@case.edu


In this report, we compared haplotyping approaches using families and unrelated individuals on the simulated rheumatoid arthritis (RA) data in Problem 3 from Genetic Analysis Workshop (GAW) 15. To investigate these two approaches, we picked two representative programs: PedPhase and fastPHASE, respectively, for each approach. PedPhase is a rule-based method focusing on the haplotyping constraints within each pedigree and solving them using integer linear programming. fastPHASE is a statistical method based on the clustering property of haplotypes in a population over short regions. It is believed that with family information, one can obtain more accurate phasing results with considerably more cost for genotyping additional family members. Our results indicate that, though only relying on the constraints within each family (with four members) individually, PedPhase has better phasing accuracy than fastPHASE, even when the total numbers of genotyped individuals are the same. But for missing genotype imputation, fastPHASE performs better than PedPhase by taking population information into consideration. The relative influence of family constraints and population information on haplotyping accuracy as shown in this report provides some empirical bases on assessing the trade-off of genotyping family data under different settings.

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