Non-coding genetic variants are crucial drivers of human diseases. However, their role in gene deregulation is challenging to interpret because they can impact many types of regulatory sequences, like promoters, enhancers and insulators. Furthermore, these regulatory sequences are often located hundreds of kilobases away from their gene targets, and different regulatory sequences may be mutated in different patients. Our lab develops computational and molecular biology methods like allele-specific expression (ASE), LLMs for variant interpretation, and high-throughput CRISPR perturbations to identify and characterize pathogenic cis-acting regulatory variants in human diseases.
