Sylvia T. Richardson

The paper introduces a Bayesian SUR model for high-dimensional QTL analysis, efficiently handling correlated metabolite data and genetic variants.

EPISPOT improves molecular QTL mapping by integrating epigenetic annotations to detect and interpret genetic hotspots with greater statistical power and biological insight.

This study uses whole-genome sequencing in a national healthcare system to diagnose rare diseases and discover new aetiological variants, identifying 95 Mendelian associations and 4 novel non-coding disease-causing variants.

The paper introduces a method to measure expression variability in single-cell RNA sequencing data, revealing synchronized translational machinery activity in immune cells and new patterns in CD4+ T cell differentiation.

This study compares generalised independence criteria for network inference, finding that distance covariance performs well on biological datasets.