Seon‐Young Kim

MARRVEL-MCP enables natural language variant interpretation by allowing LLMs to autonomously construct workflows using curated genomic tools, improving performance over models without tool access.

HAETAE predicts tissue-specific histone modifications with high accuracy using a 5-base framework and long-read sequencing data.

This study shows that disrupting Prox1 transfer to Müller glia in mice enables retinal regeneration and delays vision loss in a retinitis pigmentosa model.

The paper introduces KoNA, a national nucleotide sequence repository in Korea, and describes its infrastructure, data collection, and integration with analysis tools.

Korea4K presents whole-genome sequences of 4,157 Koreans with 107 health parameters, identifying new genotype-phenotype associations and improving imputation performance.

ModelMatcher connects researchers, clinicians, and stakeholders in rare disease research to accelerate translational studies and collaborations.

The paper aggregates and analyzes MeCP2 transcriptome data to identify a core set of perturbed genes and provides insights into MeCP2 function through a web portal.

CRISPRCloud2 provides a cloud-based platform for deconvoluting CRISPR screen data with tools for read mapping, statistical analysis, visualization, and integration with other resources.

This study shows that DYRK1A regulates calcium signaling in zebrafish vascular development, and modulating calcium signaling can rescue vascular defects in DYRK1A knockouts.

This paper introduces MeTeOR, a method using MeSH terms to generate hypotheses from PubMed literature, showing improved reliability over existing methods and validating a new EGFR-CDK2 association.

SAVE provides a cloud-based pipeline for deconvolving CRISPR pooled screening data, enabling analysis and visualization of NGS files through a secure web platform.