BMC Genomics · 2011 · 43 citations · 47 references
We conclude that the prevalence of bimodal gene expression is quite rare in healthy muscle tissue (<0.2%), and is much lower than limited reports from other studies. The major cause of these clearly bimodal expression patterns in homogeneous tissue appears to be cis-polymorphisms, indicating that such bimodal genes are, for the most part, eQTL. The high frequency of disease associations reported with these genes gives hope that this unique feature may identify or actually be an underlying factor responsible for disease development.
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Origins and functional impact of copy number variation in the human genome
Donald F. Conrad, Dalila Pinto, Richard Redon et al. · Nature · 2009 · 2K citations
Genome Study, Medicine, Genetics +9