Shigeo Kure

The paper clusters ASD patients using a deep embedded algorithm and performs cluster-based GWAS, identifying 90 significant loci associated with ASD subgroups.

The paper develops resources for NGS analysis using the Japanese reference genome JG, including variant calling, annotation, and coordinate conversion tools.

This paper constructs and integrates three de novo Japanese human genome assemblies to create a population-specific reference, improving variant calling accuracy for Japanese individuals.

This study identifies mitochondrial dysfunction in sporadic inclusion body myositis and shows that MA-5 improves mitochondrial function and protects myoblasts.

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