- 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.
| Sukenik Halevy, Rivka; Chien, Huan-Chieh; Heinz, Bo et al. (2018) Mutations in the fourth ?-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers. Hum Mutat 39:811-815 |
| Hill, Andrew J; McFaline-Figueroa, José L; Starita, Lea M et al. (2018) On the design of CRISPR-based single-cell molecular screens. Nat Methods 15:271-274 |
| 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 |
| Klein, Jason C; Chen, Wei; Gasperini, Molly et al. (2018) Identifying Novel Enhancer Elements with CRISPR-Based Screens. ACS Chem Biol 13:326-332 |
| Klein, Jason C; Keith, Aidan; Agarwal, Vikram et al. (2018) Functional characterization of enhancer evolution in the primate lineage. Genome Biol 19:99 |
| Chatterjee, Sumantra; Ahituv, Nadav (2017) Gene Regulatory Elements, Major Drivers of Human Disease. Annu Rev Genomics Hum Genet 18:45-63 |
| Starita, Lea M; Ahituv, Nadav; Dunham, Maitreya J et al. (2017) Variant Interpretation: Functional Assays to the Rescue. Am J Hum Genet 101:315-325 |
