Research
Our lab specializes in combining experimental and computational techniques to study the processes of RNA splicing and regulation at the cellular, organismal and species levels. We are interested in analyzing the fundamental mechanisms of splicing to address such questions as: What are the intermediary steps between the transcription of a pre-mRNA and the final spliced product? Is there evidence for splicing events that cannot be detected in the final exon-exon junctions such as recursive splicing or introns in introns? Can custom reporter assays be used to characterize the splicing environment within individual cells? In addition to basic science questions, we also seek to identify clinically-relevant splicing disruptions by developing and deploying high-throughput minigene assays. Our massively parallel splicing assay (MaPSy) enables us to simultaneously quantify the splicing efficiency of tens of thousands of variants, facilitating variant classification and keeping pace with the rate of variant discovery. We have also innovated new techniques for identifying lariat reads and their associated branchpoints in RNA sequencing data. Through the further application of lariat mapping to publicly available RNA-seq datasets as well as MPRA data, we aim to complete the annotation of human branchpoints, one of the last obligate gene processing signals to lack a full annotation.
