Yoonsu Cho

This study examines ancestry-related differences in variant prioritisation and diagnostic outcomes in the UK 100,000 Genomes Project, finding disparities in positive predictive value and variant of uncertain significance frequencies across groups.

This study identifies genetic variants associated with alcohol flushing in East Asian populations and suggests self-reported flushing can be used as an instrumental variable for alcohol intake.

This paper uses proteome-wide Mendelian randomization across multiple ancestries to identify causal protein-disease associations and drug targets in over 1.26 million individuals.

In 159,701 siblings from 17 cohorts, population GWAS overstate direct effects on height, education, smoking, cognition, depressive symptoms and age at first birth; clinical traits mostly agree across models.

This paper introduces within-family Mendelian randomization methods to reduce biases from family structure and shows they yield different results compared to population-based analyses.

MR-TRYX identifies novel causal pathways by leveraging horizontal pleiotropy in Mendelian randomization analyses using GWAS summary data.