Article
Predicting gene expression in massively parallel reporter assays: A comparative study.
Human mutation - 1 Sept 2017
Kreimer Anat, Zeng Haoyang, Edwards Matthew D, Guo Yuchun, Tian Kevin, Shin Sunyoung, Welch Rene, Wainberg Michael, Mohan Rahul, Sinnott-Armstrong Nicholas A, Li Yue, Eraslan Gökcen, Amin Talal Bin, Tewhey Ryan, Sabeti Pardis C, Goke Jonathan, Mueller Nikola S, Kellis Manolis, Kundaje Anshul, Beer Michael A, Keles Sunduz, Gifford David K, Yosef Nir
Abstract excerpt
In many human diseases, associated genetic changes tend to occur within noncoding regions, whose effect might be related to transcriptional control. A central goal in human genetics is to understand the function of such noncoding regions: given a region that is statistically associated with changes in gene expression (expression quantitative trait locus [eQTL]), does it in fact play a regulatory role? And if so,...
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