BACKGROUND Single variant approaches have been successful in identifying DNA methylation quantitative trait loci (mQTL), although as with complex traits they lack the statistical power to identify the effects from rare genetic variants. We have undertaken extensive analyses to identify regions of low frequency and rare variants that are associated with DNA methylation levels. METHODS We used ...

I show that fine-scale localization of a survival-related locus can be accomplished on the basis of deviations from Hardy-Weinberg equilibrium and linkage disequilibrium at closely linked marker loci. The method is based on chi(2)-tests and they can be performed for age-specific samples of alive (or dead) individuals, as for combined samples of alive and dead individuals.

Model search strategies play an important role in finding simultaneous susceptibility genes that are associated with a trait. More particularly, model selection via the information criteria, such as the BIC with modifications, have received considerable attention in quantitative trait loci (QTL) mapping. However, such modifications often depend upon several factors, such as sample size, prior d...

It is not economically feasible to sequence all study subjects in a large cohort. A cost-effective strategy is to sequence only the subjects with the extreme values of a quantitative trait. In the National Heart, Lung, and Blood Institute Exome Sequencing Project, subjects with the highest or lowest values of body mass index, LDL, or blood pressure were selected for whole-exome sequencing. Fail...

The power of yeast genetics has now been extensively applied to phenotypic variation among strains of Saccharomyces cerevisiae. As a result, over 100 genes and numerous sequence variants have been identified, providing us with a general characterization of mutations underlying quantitative trait variation. Most quantitative trait alleles exert considerable phenotypic effects and alter conserved...