Dr. Patricia Sullivan is a Bioinformatics Scientist in the Rokita Lab at Children’s National Hospital (CNH).
During her Ph.D., Dr. Sullivan conducted extensive research on splice-altering variants with a focus on pediatric cancers, earning a reputation among colleagues as the “splice whisperer.” She advanced the computational tool, Introme, a machine learning tool to predict the impact of DNA variants on RNA splicing, and led the development of SpliceVarDB, an interactive database of experimentally-validated human splice variants. Dr. Sullivan was awarded a prestigious Fulbright Scholarship, where she collaborated with leading variant curation teams at the Broad Institute to improve the interpretation of splice-altering variants within the Rare Genomes Project and ClinGen, contributing to more accurate pathogenicity assignments in clinical genomics.
Dr. Sullivan is passionate uncovering overlooked variant types, such as those in noncoding regions, to improve genetic diagnoses and broaden the impact of personalized medicine.
Dr. Sullivan completed her Ph.D. at the Children’s Cancer Institute (CCI) and the University of New South Wales (UNSW) in Australia. Outside of the lab, Patricia enjoys traveling, playing ice hockey, and spending time outdoors, whether hiking, swimming, or exploring new places.
Search for Patricia Sullivan, Ph.D.'s papers on the Publications page