Characterization of de novo promoter variants in autism spectrum disorder with massively parallel reporter assays

To functionaly test thousands of promoter based Autism associated de novo variants, we established neural progenitor cells from human embryonic stem cells and performed massively parallel reporter assays to collect transcription rates associated with reference and alternate allele sequences Overall design: functional analysis of ~7,000 sequence regions harboring Autism de novo variants was conducted utilizing massively parallel reporter assays in 3 replicates of Neural Progenitor Cells (NPCs) dervied from human embryonic stem cells.