Evaluating the role of cis-regulatory tandem DNA repeats in human disease and evolution

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Using our dataset, we aimed to construct a lentivirus-based reporter assay library for evaluating the activity of enhancers and their polymorphic deletion variants. We surmised that construction of VNTRs in a lentirival vector would face limitations of DNA element size and possible instability due to the repetitive nature of the elements. We therefore developed alternative approaches to measure gene-regulatory properties of VNTRs in a high-throughput manner based on epigenome editing and precision gene editing of endogenous VNTRs. For these purposes, we prepared iPS cell lines for CRISPRi and a protocol for controlling VNTR copy number. In revision, we expect MPRA screens to be performed using minimal cCRE elements identified within VNTR sequences.