Dongwon Lee

Kidzoi Enables Cell-Type-Specific Regulatory Activity and Variant Effect Prediction in Kidney

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

The landscape of allele-specific expression in human kidneys

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

Synaptic input-selective homeostasis safeguards developing cortical neurons toward setpoint activity

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

Identification of candidate causal cis-regulatory variants underlying electrocardiographic QT interval GWAS loci

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

Massively parallel reporter assays identify functional enhancer variants at QT interval GWAS loci

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

Identification of the molecular components of enhancer-mediated gene expression variation in multiple tissues regulating blood pressure

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

Accurate cross-platform GWAS analysis via two-stage imputation

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.

Tissue-specific and tissue-agnostic effects of genome sequence variation modulating blood pressure

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

Mapping genomic regulation of kidney disease and traits through high-resolution and interpretable eQTLs

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

Antisense oligonucleotide therapy rescues disturbed brain rhythms and sleep in juvenile and adult mouse models of Angelman syndrome

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.

Quality assessment and refinement of chromatin accessibility data using a sequence-based predictive model

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

Sequence-based correction of barcode bias in massively parallel reporter assays

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.

Analysis of putative cis-regulatory elements regulating blood pressure variation

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.