Abstract
Many trait-associated genetic variants lie within non-coding portions of the genome. One particularly unexplored fraction of the genome is transposable elements (TEs). Growing evidence implicates these repetitive regions in the regulation of gene expression, but their contribution to human phenotypes remains unclear. This project aims to perform a computational and experimental assessment of TE regulatory function in the context of the human placenta, where we have identified specific TE families with the potential to act as gene regulators. We will test the hypothesis that functional variants have been hiding in the ‘dark matter’ of our genome and impact human phenotypes.
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