Runjia Li

MissenseHMM annotates missense variants with states derived from joint modeling of pathogenicity scores, improving associations with clinical and experimental data.

EpiATLAS provides a comprehensive collection of human reference epigenomes to advance epigenomic research and understanding of cellular function and disease.

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.

The paper identifies associations of de novo noncoding variants with autism by integrating gene expression, sequence, and sex information using a new analytical framework.