Research Interests

The torrent of variants emerging from human resequencing studies coupled with the growing number of common, disease-associated noncoding variants has created an urgent need for determining the consequences of variation within regulatory DNA. In contrast to the vast diversity of protein function, the elements that regulate gene expression recruit from a shared repertoire of transcription factors, offering the potential for a common regulatory sequence code. Our lab is thus interested in establishing a foundation for the mechanistic study of regulatory variation, with the long-term goal of understanding how the noncoding genome affects cell-type specific transcriptional regulation. We apply both experimental and computational approaches and our interests include:

  1. Genome engineering approaches for dissection of regulatory architecture
  2. Prediction of functional effects of non-coding regulatory variation
  3. Regulatory variation and the genetics of human diseases and traits
  4. Profiling of chromatin features and their relationship to nuclear organization and function


May 2024
Raquel Ordoñez's paper on enhancer swapping at the Igf2/H19 and Sox2 loci has published in Molecular Cell.

March 2024
Raquel Moya has posted a preprint on the CACNA1C intron 3 repeat, in collaboration with the Tsien lab. Raquel will also be defending her thesis this month!

March 2023
Our manuscript using synthetic regulatory genomics to show how enhancers work together at Sox2 has been published in Molecular Cell.

January 2022
A paper co-first authored by former lab member Nick Vulpescu on finding target genes of GWAS loci has been accepted at Human Genetics. Nick is now doing a PhD in the Velculescu lab at JHU. A second paper, Analysis of genomic context sensitivity, by Andre, Megan, Raven, and Ran has been accepted for publication in Genome Research.