- from Parent Grant The Encyclopedia of DNA Elements (ENCODE) project has made remarkable progress towards identifying all regulatory elements in the human genome, but nearly all of these predictions have not been functionally tested. We plan to use massively parallel reporter assays to characterize at least 100,000 ENCODE-annotated candidate regulatory elements for their function. In addition, we will use CRISPR/Cas9-based multiplex genome editing to generate mutations in thousands of these elements in their endogenous context, followed by genomic assays that will provide further validation while also linking elements to the genes that they regulate.
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| Jorgenson, Eric; Matharu, Navneet; Palmer, Melody R et al. (2018) Genetic variation in the SIM1 locus is associated with erectile dysfunction. Proc Natl Acad Sci U S A 115:11018-11023 |
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