Clinical Bioinformatics Lab

We are transforming healthcare through data-driven innovation.
By bridging Engineering, Biology, and Medicine, we integrate clinical data, genomics, and artificial intelligence to advance precision medicine and improve patient outcomes.

Our goal is accurate variant interpretation for clinical decision-making.
Our research converges on a mission: translating genomic variants into clinically actionable insights. We develop computational frameworks and clinical guidelines that integrate multi-omics data, population databases, and functional predictions to systematically assess variant pathogenicity and therapeutic implications.

We solve real-world clinical challenges alongside physicians.
Working closely with our clinical collaborators, we develop tools that support physicians in molecular diagnosis and treatment decision-making. Our solutions span the entire pipeline—from initial discovery to clinical translation.

Research Highlights

Microsatellite Instability Detection using DNA

Comprehensive microsatellite instability (MSI) analysis across various cancer types to identify potential biomarkers for precision oncology and personalized treatment strategies.

Microsatellite Instability Detection using RNA

MIRACLE: Microsatellite instability (MSI) detection using RNA-seq data, enabling MSI status determination without DNA sequencing.

Microsatellite Instability Detection using WSI

Deep learning-based MSI detection from whole slide images, enabling cost-effective screening across multiple cancer types without molecular testing.

NGS-based Sample Identity Verification

NGS-based sample identity verification tool for human samples to ensure data integrity and prevent sample mix-ups in genomic studies.

Korean TE insertion Database

Comprehensive database of transposable element (TE) insertion in Korean populations providing population-specific genomic resources for precision medicine.