Yusuke Iwasaki

This study identifies genetic loci and causal traits associated with ossification of the posterior longitudinal ligament of the spine using GWAS and Mendelian randomization analyses.

The paper demonstrates federated analysis of BRCA1 and BRCA2 variants in a Japanese cohort to interpret variants of uncertain significance without transferring sensitive data.

The paper screens 12,503 Japanese CRC patients and 23,705 controls for germline variants in 27 cancer genes, finding 3.3% of patients have pathogenic variants linked to CRC risk.

The paper evaluates the ACMG PP3 and BP4 rules using Align-GVGD on ATM and CHEK2 data, finding that severe Align-GVGD grades exceed a moderate pathogenic threshold in a Bayesian framework.