Shuang� Li

KidneyNetwork predicts kidney-specific gene functions and disease phenotypes using co-expression networks, identifying ALG6 as a candidate gene for kidney and liver cysts in undiagnosed patients.

The paper identifies shorter QRS duration in asymptomatic PLN c.40_42delAGA carriers and links it to genetic sensitivity in symptomatic carriers.

The paper identifies co-expression QTLs (co-eQTLs) using single-cell RNA-seq data, revealing how genetic variants affect gene co-expression patterns and regulatory networks in specific cell types.

The paper integrates DNA methylation and gene expression networks to improve prediction of functional gene-gene associations using eQTMs and a novel integration pipeline.

The paper uses blood eQTL meta-analysis to explore the polygenic architecture of complex traits, finding that trans-eQTLs are more informative for identifying causal genes than cis-eQTLs.

CAPICE is a machine learning method that prioritizes pathogenic variants in exomes, outperforming existing tools for rare and ultra-rare variants.