Sung‐Gwon Lee

The paper benchmarks missense pathogenicity predictors on cancer drivers and provides a per-gene calibration map to improve their performance in somatic variant interpretation.

The paper investigates two STAT5B mutations in T cell leukemias, showing one causes gain-of-function and the other loss-of-function, with distinct impacts on immune cell populations and transcriptional activity.

The paper introduces NeEDL, a network medicine-based method for detecting higher-order epistatic interactions in complex diseases, showing improved statistical significance and applicability across eight diseases.

The paper analyzes alternative splicing patterns in immune cells across SARS-CoV-2 variants and vaccination statuses, finding variant- and vaccination-specific profiles and a unique splicing dynamic in vaccinated Omicron-infected individuals.