Sangwoo Kim

SEME corrects aberrant splicing in iPSC-CMs by programmable microexon incorporation, restoring filamin C expression in a dilated cardiomyopathy model.

The paper evaluates which layers of genomic foundation models are most critical for variant classification, finding that representative and load-bearing layers differ in their roles and positions within the model.

GDTR measures nucleotide settling depth in genomic models to reveal biological grammar stability across layers, showing splice sites settle earlier than intronic regions and identifying variant impact through differential depths.

This study identifies developmental meningeal mosaicism as the origin of human meningiomas, showing that driver mutations are present in phenotypically normal meninges and shared across tumors.

The paper identifies de novo mutations contributing to meningomyelocele risk by analyzing trios and finding damaging mutations in 22.3% of cases.

This paper establishes reference standards for mosaic variant analysis using a large set of simulated variants to improve detection accuracy and algorithm development.

The paper analyzes low-level somatic mutations across multiple organs and developmental stages, finding stage- and tissue-specific mutational features.

RePlow improves low-VAF somatic mutation detection by using technical replicates, reducing false positives by up to 99%.