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Genotyping errors can create a problem for the analysis of case‐parents data because some families will exhibit genotypes that are inconsistent with Mendelian inheritance. The problem with correcting Mendelian inconsistent genotype errors by regenotyping or removing families in which they occur...
Certain congenital disorders that are rare in the general population are quite common in individuals with trisomic conditions. For example, complete atrioventricular septal defect occurs in about 20% of individuals with Down syndrome, an approximately 500‐fold increase in risk as compared to...
In many genetic linkage analyses, the P value is obtained through simulation since the underlying distribution of the test statistic is complex and unknown. However, this can be very computationally intensive. A “bootstrap/replicate pool” approach has been suggested that generates P values...
Existing standard methods of linkage analysis for quantitative phenotypes rest on the assumptions of either ordinary least squares (Haseman and Elston (1972) Behav. Genet. 2:3–19; Sham and Purcell (2001) Am. J. Hum. Genet. 68:1527–1532) or phenotypic normality (Almasy and Blangero (1998) Am....
Recently, Liang et al. ((2001b) Genet. Epidemiol. 21:105–122) proposed a conditional approach to assess linkage evidence on the target region by incorporating linkage information from an unlinked (reference) region using allele shared IBD (identity‐by‐decent) from affected sib pairs. This...
Which genotype misclassification errors are most costly, in terms of increased sample size necessary (SSN) to maintain constant asymptotic power and significance level, when performing case/control studies of genetic association? We answer this question for single‐nucleotide polymorphisms...
IL10 is an anti‐inflammatory cytokine that has been found to have lower production in macrophages and mononuclear cells from asthmatics. Since reduced IL10 levels may influence the severity of asthma phenotypes, we examined IL10 single‐nucleotide polymorphisms (SNPs) for association with...
Haplotype analysis is essential to studies of the genetic factors underlying human disease, but requires a large sample size of phase‐known data. Recently, directly haplotyping individuals was suggested as a means of maximizing the phase‐known data from a sample. Haplotyping, however, is much...
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