Dongwon Lee

Kidzoi is a kidney-specific sequence-to-function model that improves variant effect prediction and chromatin accessibility prediction in proximal tubule cells.

This study maps allele-specific expression in human kidney disease, finding increased glomerular ASE associated with better disease outcomes.

The paper shows developing cortical neurons achieve activity setpoints through input-selective synaptic remodeling, overcoming perturbations by selectively strengthening excitation and reducing inhibition.

The paper identifies candidate causal cis-regulatory variants at electrocardiographic QT interval GWAS loci by integrating open chromatin data and expression quantitative trait loci.

The paper identifies functional enhancer variants at QT interval GWAS loci using MPRA and predicts their impact on cardiac gene expression.

The paper identifies genes regulating blood pressure by analyzing enhancer variants and integrating epigenomic data with genotype-phenotype associations across multiple tissues.

This paper introduces TSIM, a two-stage imputation method for GWAS that harmonizes heterogeneous genotyping data, controlling errors and replicating known associations without false positives.

The paper identifies tissue-specific regulatory variants influencing blood pressure heritability using GWAS and gene expression data.

The paper identifies high-resolution eQTLs in kidney tissues using Bayesian fine mapping with integrative priors, improving resolution and functional relevance.

This study shows that reducing Ube3a-ATS with antisense oligonucleotides rescues EEG rhythms and sleep in Angelman syndrome mouse models, suggesting a broader therapeutic window than previously believed.

The paper introduces gkmQC, a sequence-based model to assess and refine chromatin accessibility data quality, improving peak calling and regulatory element alignment.

This paper introduces a sequence-based method to correct barcode bias in MPRA experiments, improving detection of functional regulatory variants and capturing post-transcriptional regulatory features.

The paper identifies putative cis-regulatory elements associated with blood pressure traits using open chromatin and gene expression data, and identifies several candidate genes for further functional testing.