Xinzhe Li

Evaluation of the genome-informed risk assessment (GIRA) approach from eMERGE in an independent health system

This study evaluates the GIRA approach in a health system, finding 30.4% of patients labeled high-risk based on genomic data, with ancestry differences and social deprivation influences.

Statistical uncertainty explains the poor agreement in polygenic scoring for type 2 diabetes

The paper shows that statistical uncertainty explains disagreement in type 2 diabetes polygenic scores and proposes using uncertainty measures to improve risk prediction.

Genome-wide analysis implicates inner ear development in Meniere's disease

This study identifies genetic loci associated with Meniere's disease and links them to inner ear development and retinoic acid metabolism.

A Single-Cell and Spatial 3D Multi-omic Atlas of Developing Human Basal Ganglia and Inhibitory Neurons

This study creates a 3D multi-omic atlas of developing human basal ganglia and inhibitory neurons, revealing lineage-specific 3D genomic dynamics and regulatory programs associated with neuropsychiatric disease risk.