Genome-wide association study of prostate-specific antigen levels in 392,522 men identifies new loci and improves prediction across ancestry groups

Multi-Ancestry Genome-Wide Association Study Reveals New Loci for Prostate-Specific Antigen Levels and Improves Prediction Across Ancestral Groups Research Background and Problem Statement Prostate-specific antigen (PSA) is a protein secreted by the prostate gland, commonly used for prostate cancer screening. However, PSA levels are influenced not ...

Mechanistic Insights into Inactivating Mutations in the Proton-Coupled Folate Transporter (SLC46A1), and Compensatory Mutations that Restore Function

Research Background and Problem Statement Hereditary Folate Malabsorption (HFM) is a rare autosomal recessive disorder characterized by impaired intestinal absorption of folates and hindered transport across the choroid plexus into cerebrospinal fluid. This disease is caused by inactivating mutations in the gene encoding the Proton-Coupled Folate T...

A Statistical Framework for Multi-Trait Rare Variant Analysis in Large-Scale Whole-Genome Sequencing Studies

A New Framework for Multi-Trait Rare Variant Analysis: Multistaar Research Background and Problem Statement With the advancement of next-generation sequencing technologies and the decreasing cost of whole-genome sequencing (WGS), researchers can delve deeper into the impact of rare variants on complex human traits. However, single-trait analysis me...

The Inflammatory Landscape of a Whole-Tissue Explant Model of Hidradenitis Suppurativa

Research Background Current Status and Challenges in Hidradenitis Suppurativa Research Hidradenitis Suppurativa (HS) is a relatively common and highly morbid inflammatory skin disease. It affects approximately 1% of the global population, disproportionately impacting women and marginalized groups. HS’s pathogenesis is complex, involving genetic, im...

Development and Validation of a Time-Varying Correction Factor for QT Interval Assessment in Drug-Resistant Tuberculosis Patients

Development and Validation of a Time-Varying Correction Factor for QT Interval Assessment in Drug-Resistant Tuberculosis Patients Academic Background and Research Motivation During the treatment of active tuberculosis (Tuberculosis, TB), patients often experience tachycardia (Tachycardia), which typically diminishes as they recover. Elevated heart ...