Sung‐Soo Yoon

The paper identifies new cancer predisposing genes by analyzing rare germline variants in Mendelian disease genes across cancer cohorts.

ETCHING is an ultra-fast somatic structural variation caller that reduces mapping costs and false positives using pan-genome k-mer sets and a Random Forest classifier.

The paper identifies dsRNA-binding proteins that mediate decitabine's effects by stabilizing ERV RNAs, showing low Stau1 and TINCR expression correlates with poor treatment outcomes in AML patients.

This study identifies germline mutations in lysosomal storage disease genes as risk factors for cancer, showing increased cancer risk and earlier onset in mutation carriers.

The paper analyzes immuno-genomic data across 31 cancer types to identify immune escape mechanisms and immuno-editing histories.