Soichi Ogishima

RareLink enables interoperability between REDCap and global health standards by exporting data to Phenopackets and FHIR, improving rare disease research scalability and data reuse.

The paper introduces the GA4GH Phenopacket schema to standardize the exchange of phenotypic data for precision medicine applications.

The paper identifies seven new potentially pathogenic BRCA1/BRCA2 variants in a Japanese population using computational scores and cohort analysis.

The paper uses clustering and genome-wide association studies to identify subgroups in autism spectrum disorder and finds significant loci associated with these subgroups.

This study identifies three new CAD loci through transethnic GWAS and highlights population-specific genetic differences between Japanese and European populations.

This study identifies 14 nephrolithiasis susceptibility loci in the Japanese population, including 9 novel loci, and links them to metabolic and crystallization pathways.