Luca Stefanucci

VIDRA models genetic dose-response relationships to predict drug mechanisms, therapeutic potential, and adverse events using phenotypically associated variants.

The paper identifies USP18 as a negative regulator of interferon response at a lupus risk locus through trans-eQTL analysis in lymphoblastoid cell lines.

The paper identifies molecular and metabolic signatures of cardiometabolic syndrome using extreme phenotype groups and shows changes after bariatric surgery.

This study uses long-read sequencing to identify and characterize structural variants in antithrombin deficiency cases that routine methods missed.

The paper identifies complex structural variants in Mendelian disorders using short-read and long-read sequencing, showing their clinical significance and the utility of long-read technology for resolution.