Fumihiko Matsuda

The paper identifies population-specific pQTLs and drug targets in the Japanese population by integrating plasma proteome and genome data.

This paper identifies risk proteins for intracranial aneurysms using multi-ancestry proteogenomic analysis and finds ADH4 and PLEKHA1 as non-blood pressure-mediated candidates.

The paper sequenced 3,135 Japanese individuals to identify genetic variants and construct a reference haplotype, highlighting the need for diverse population inclusion in genetic catalogs.

This study uses proteome-phenome-wide Mendelian randomization across three ancestries to identify protein-phenotype associations and potential therapeutic targets.

This study identifies 118 candidate causal genes and 21 novel lipid loci on the X chromosome through a multi-ancestry meta-analysis of blood lipid levels, revealing sex-biased effects and pleiotropy with cardiovascular and hormonal traits.

This paper integrates GWAS data with functional genomic datasets to identify regulatory mechanisms and causal genes underlying lipid-related traits.

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

This study identifies novel genetic loci for coronary artery disease in Japanese and transethnic populations and develops a polygenic risk score that outperforms population-specific scores.

The paper introduces a whole-genome reference panel of 1,781 Northeast Asians, showing improved imputation accuracy for rare and low-frequency variants compared to existing panels.

The paper identifies a batch effect in 1000 Genomes Project data causing spurious mutation calls and affecting GWAS results, suggesting legacy data may need to be retired or upgraded.

LAVENDER identifies latent axes of variability in cytometry data by estimating non-parametric divergence and reconstructing samples in a new coordinate space, revealing biological insights from immunological datasets.