Abstract
BackgroundStatistical power calculations are a critical part of any study design for gene mapping. Most calculations assume that the locus of interest is biallelic. However, there are common situations in human genetics such as X-linked loci in males where the locus is haploid. The purpose of this work is to mathematically derive the biometric model for haploid loci, and to compute power for QTL mapping when the loci are haploid.ResultsWe have derived the biometric model for power calculations for haploid loci and have developed software to perform these calculations. We have verified our calculations with independent mathematical methods.ConclusionOur results fill a need in power calculations for QTL mapping studies. Furthermore, failure to appropriately model haploid loci may cause underestimation of power.
Highlights
Statistical power calculations are a critical part of any study design for gene mapping
There has been an extensive amount of literature written on the analysis of haploid data To our knowledge, there has been no power calculator developed for quantitative trait locus (QTL) mapping with haploid loci
Calculations of simulation power as function of Locus specific QTL heritability and increaser allele frequency In Table 1, we provide an abbreviation of all the variables used in the Results section
Summary
Statistical power calculations are a critical part of any study design for gene mapping. There has been an extensive amount of literature written on the analysis of haploid data (see, e.g., Wu et al [4,5], Tulsieram et al [6]) To our knowledge, there has been no power calculator developed for QTL mapping with haploid loci. This is an oversight, since there are several common situations in humans involving loci that are haploid or hemizygous [7,8]
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