Broadly speaking, I am interested in genome sequencing and its future role in our daily lives. With the age of rapidly decreasing sequencing costs, it is not difficult to imagine an age where personal genetic information plays an important role in medicine and daily life. (Note: If you’re at this site and totally confused as to what I’m talking about, I highly recommend watching this low-technical-level Primer on Genomics by my advisor, Mike Snyder). We are constantly discovering more and more of the genetic basis of diseases, but much work has yet to be done in fully explaining the genetic components of disease and other phenotypes.

In my current research, I am interested in gene regulation at a genome-wide scale. While I have had a soft spot for all layers of regulation (DNA, RNA and protein levels), my current research is primarily focused on regulation of gene expression at the transcriptional (DNA) level. Using ChIP-Seq methods in human cell lines and sophisticated informatics methods, I am working to characterize interactions between transcription factors.



RSS Recent Publications

  • Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, Bolduc V, Waddell LB, Sandaradura SA, O'Grady GL, Estrella E, Reddy HM, Zhao F, Weisburd B, Karczewski KJ, O'Donnell-Luria AH, Birnbaum D, Sarkozy A, Hu Y, Gonorazky H, Claeys K, Joshi H, Bournazos A, Oates EC, Ghaoui R, Davis MR, Laing NG, Topf A, Genotype-Tissue Expression Consortium, Kang PB, Beggs AH, North KN, Straub V, Dowling JJ, Muntoni F, Clarke NF, Cooper ST, Bönnemann CG, MacArthur DG

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