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. Author manuscript; available in PMC: 2021 Apr 2.
Published in final edited form as: Nat Neurosci. 2020 Nov 16;23(12):1509–1521. doi: 10.1038/s41593-020-00740-1

Figure 1: Framework for using massively parallel reporter Assays (MPRAs) to characterize putative regulatory elements with cell-type specificity.

Figure 1:

An MPRA library can be designed to include disorder-associated SNPs within putative regulatory elements that have been prioritized through genome-wide association studies (GWAS) and Transcriptomic Imputation (TI) analyses. Patient fibroblasts or peripheral blood mononuclear cells (PBMCs) can be induced into a pluripotent state (hiPSCs). With further adaptation, lenti-MPRA libraries could be integrated into hiPSC-derived mature brain cells. By comparing DNA and RNA sequencing of these cells, MPRAs provide a readout of transcriptional differences between the alleles present in patient versus control populations. If transcriptional shifts exist between variants at a specific region, the transcriptional influence of that SNP can be characterized in the context of genetic risk for a disorder.