Article
Genotype-based test in mapping cis-regulatory variants from allele-specific expression data.
PloS one - 1 Jan 2012
Lefebvre Jean Francois, Vello Emilio, Ge Bing, Montgomery Stephen B, Dermitzakis Emmanouil T, Pastinen Tomi, Labuda Damian
Abstract excerpt
Identifying and understanding the impact of gene regulatory variation is of considerable importance in evolutionary and medical genetics; such variants are thought to be responsible for human-specific adaptation and to have an important role in genetic disease. Regulatory variation in cis is readily detected in individuals showing uneven expression of a transcript from its two allelic copies, an observation...
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