- University of California, San Diego, 2012, Ph.D.
- University of Maine, 2005, B.S.
- Molecular and Cellular Biology
The past decade has seen a transformational change in our understanding of the human genome and the role it plays in influencing disease risk. Large-scale projects such as Encyclopedia of DNA Elements (ENCODE) have identified which non-coding regions are important for gene regulatory function. Furthermore, the proliferation of genome wide association studies (GWAS) and scans for recent positive selection have identified thousands of loci that influence human health. Taken together, these efforts show the predominant contributors of heritability for complex disease are common polymorphisms that reside within non-coding regions of the genome. However, despite our progress in mapping genetic signatures correlated with disease, very few examples exist that mechanistically link genotypic variation to disease risk.
The mission of our research group is to bridge the genotype/phenotype gap by improving our ability to interpret single nucleotide variants that directly modulate gene expression. We approach this problem by (i) directly characterizing and interpreting the grammar of regulatory elements, in both mouse and human models, using novel technological approaches such as high-throughput reporter assays and CRISPR based screens of non-coding regions in the genome. (ii) Using our experimental methods and guided by existing genome wide association studies we seek to validate causal variants and construct better animal models that precisely reflect disease phenotypes.
- Tewhey R, Kotliar D, Park DS, Liu B, Winnicki S, Reilly SK, Andersen KG, Mikkelsen TS, Lander ES, Schaffner SF, Sabeti PC. Direct Identification of Hundreds of Expression-Modulating Variants using a Multiplexed Reporter Assay. Cell. 2016 Jun 2.
- Tewhey R, Bansal V, Torkamani A, Topol EJ, Schork NJ. The importance of phase information for human genomics. Nature Reviews Genetics. 2011 Mar 12.
- Tewhey R, Nakano M, Wang X, Pab.n-Pe.a C, Novak B, Giuffre A, Lin E, Happe S, Roberts DN, LeProust EM, Topol EJ, Harismendy O, Frazer KA. Enrichment of sequencing targets from the human genome by solution hybridization. Genome Biology. 2009 Oct 16.
- Tewhey R, Warner JB, Nakano M, Libby B, Medkova M, David PH, Kotsopoulos SK, Samuels ML, Hutchison JB, Larson JW, Topol EJ, Weiner MP, Harismendy O, Olson J, Link DR, Frazer KA. Microdroplet-based PCR enrichment for large-scale targeted sequencing. Nature Biotechnology. 2009 Feb 28.
- Full list of publications: https://www.ncbi.nlm.nih.gov/myncbi/browse/collection/42808855/?sort=date&direction=descending