Timothy Shin Heng Mak

EraSOR addresses sample overlap in polygenic score analyses by adjusting for inflation in PRS prediction and association statistics, improving robustness in the presence of inter-cohort overlap.

Best-practice guidance for polygenic risk score (PRS) analysis: PRS-specific quality control, shrinkage and linkage disequilibrium handling, liability-scale R^2, overfitting control, and UK Biobank power examples.

This paper develops methods to calculate polygenic scores using raw genetic data from UK Biobank while avoiding overfitting, showing improved predictive power for six phenotypes.

The paper uses polygenic scores to show genetic overlaps between lumbar disc degeneration and height, BMI, and BMD in Chinese and Japanese cohorts.

KS-Burden assesses distributional differences of rare variants between affected and unaffected subjects, outperforming SKAT-O in scenarios with causal variant clusters.

This paper introduces lassosum, a penalized regression method for constructing polygenic scores using summary statistics and a reference panel, showing improved accuracy and efficiency compared to existing methods.