Human proteome-wide mechanistic interpretation of missense variants through protein feature enrichment score

Seulki is a research scientist at the Bioinformatics and Machine Learning group at the Broad Institute of MIT and Harvard. Her research focuses on connecting genetic variant data to protein structure and function by using bioinformatics and computational biophysics methodologies. Her talk will focus on the protein feature enrichment score (PFES), a proteome-wide scoring framework that leverages protein features to mechanistically interpret missense variants and their impact on protein function.