Kohei Tomizuka

The human RNA-DNA interactome is cell type-specific and dynamic

The paper maps RNA-DNA interactions in 16 human cell types, showing cell-type-specific and dynamic networks that correlate with gene regulation and disease traits.

Sequence sensitivity of open chromatin reveals constrained regulatory elements underlying human traits

The paper introduces CAMBUS, a machine-learning framework to identify functionally important open chromatin regions by measuring sequence sensitivity, and finds these regions are enriched for evolutionary constraint and disease-related variants.

Genotype imputation accuracy and the quality metrics of the minor ancestry in multi-ancestry reference panels

The paper evaluates genotype imputation accuracy in multi-ancestry reference panels and finds that the Rsq metric overestimates dosage r2 due to systematic bias in imputation quality.

Genetic insights into ossification of the posterior longitudinal ligament of the spine

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.

Trans-ancestry genome-wide association study identifies novel genetic mechanisms in rheumatoid arthritis

This study conducts a trans-ancestry GWAS of rheumatoid arthritis, identifying 124 loci, 34 novel, and shows improved polygenic risk score performance across populations.