Masaru Koido

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.

Genetic influence of BCAA metabolism on type 2 diabetes and coronary artery disease, independent of traditional risk factors

The paper identifies a genetic factor influencing BCAA metabolism independent of traditional risk factors and links it to T2D and CAD.

Genetic Architecture of Circulating Metabolic Biomarkers Across Ancestral Populations

This study identifies genetic associations with metabolic biomarkers across ancestries and shows their predictive value for disease risk.

Self-Organization of Sinusoidal Vessels in Pluripotent Stem Cell-derived Human Liver Bud Organoids

This study develops a method to generate human liver bud organoids with functional sinusoidal vessels, demonstrating their potential for coagulation disorder therapies.

Recurrent stroke prediction by applying a stroke polygenic risk score in the Japanese population

This study develops a polygenic risk score (metaGRS) for predicting recurrent stroke in the Japanese population using data from the BioBank Japan cohort, finding it associates with increased recurrence risk, particularly in individuals without hypertension.

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.

Causal relevance of different blood pressure traits on risk of cardiovascular diseases: GWAS and Mendelian randomisation in 100,000 Chinese adults

This study identifies 128 BP-associated loci in Chinese adults through GWAS and shows causal links between BP traits and CVD using Mendelian randomisation.

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.

Trans-ancestry meta-analysis improves performance of genetic scores for multiple adiposity-related traits in East Asian populations

This paper improves genetic scores for adiposity traits in East Asian populations by using trans-ancestry meta-analysis, increasing variance explained compared to European-derived scores.

Efficient prediction of a spatial transcriptomics profile better characterizes breast cancer tissue sections without costly experimentation

The paper develops DeepSpaCE, a deep learning model that predicts spatial transcriptomics profiles to improve histological interpretation of breast cancer tissue sections without additional experiments.

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.

Systematic identification of cis-interacting lncRNAs and their targets

The paper identifies cis-interacting lncRNAs and their targets using RNA-chromatin and Hi-C data across 18 human cell types.

Meta-analysis of 208,370 East Asians identifies 113 genomic loci and yields new non-immune cell relevant biological insights for systemic lupus erythematosus

This study identifies 113 genomic loci for SLE in East Asians, including 46 novel loci, and highlights non-immune cell-related biological mechanisms.

Predicting cell-type-specific non-coding RNA transcription from genome sequence

The paper develops MENTR, a machine learning framework to predict cell-type-specific ncRNA transcription from genome sequence, identifying causal variants and ncRNAs associated with complex traits.