Bayesian association of haplotypes and non-genetic factors to regulatory and phenotypic variation in human populations

摘要

Motivation: With the recent availability of large-scale data sets profiling single nucleotide polymorphisms (SNPs) and quantitative traits data across different human subpopulations, there has been much attention directed towards discovering patterns of genetic variation and their connection to gene regulation and the onset/progression of disease. While previous work has focused primarily on correlating individual SNP markers with gene expression and disease, it has been suggested that using haplotype blocks instead of individual markers can significantly increase statistical power.