Article
Removing reference mapping biases using limited or no genotype data identifies allelic differences in protein binding at disease-associated loci.
BMC medical genomics - 26 Jul 2015
Buchkovich Martin L, Eklund Karl, Duan Qing, Li Yun, Mohlke Karen L, Furey Terrence S
Abstract excerpt
BACKGROUND: Genetic variation can alter transcriptional regulatory activity contributing to variation in complex traits and risk of disease, but identifying individual variants that affect regulatory activity has been challenging. Quantitative sequence-based experiments such as ChIP-seq and DNase-seq can detect sites of allelic imbalance where alleles contribute disproportionately to the overall signal suggesting...
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