The Use of Haplotypes in the Identification of Interaction between SNPs

作者: Gie Ken-Dror , Steve E. Humphries , Fotios Drenos

DOI: 10.1159/000350964

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摘要: Although haplotypes can provide great insight into the complex relationships between functional polymorphisms at a locus, their use in modern association studies has been limited. This is due to our inability directly observe of unrelated individuals, but also extra complexity involved analysis and difficulty identifying which truly informative haplotype. Using series simulations, we tested number different models haplotype carrying two single nucleotide (SNPs) assess ability haplotypic identify interactions SNPs same locus. We found that, when phase known, more powerful than individual SNPs. The difference approaches becomes less either as an increasing non-informative are included, or unknown, while both cases SNP progressively better association. Our results suggest that novel genotyping bioinformatics methods available reconstruct phase, this will permit emergence new wave able consider with increased statistical power.

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