Article
Global discovery of lupus genetic risk variant allelic enhancer activity.
Nature communications - 12 Mar 2021
Lu Xiaoming, Chen Xiaoting, Forney Carmy, Donmez Omer, Miller Daniel, Parameswaran Sreeja, Hong Ted, Huang Yongbo, Pujato Mario, Cazares Tareian, Miraldi Emily R, Ray John P, de Boer Carl G, Harley John B, Weirauch Matthew T, Kottyan Leah C
Abstract excerpt
Genome-wide association studies of Systemic Lupus Erythematosus (SLE) nominate 3073 genetic variants at 91 risk loci. To systematically screen these variants for allelic transcriptional enhancer activity, we construct a massively parallel reporter assay (MPRA) library comprising 12,396 DNA oligonucleotides containing the genomic context around every allele of each SLE variant. Transfection into the Epstein-Barr...
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