Fuyuki Miya

MARiO predicts cancer missense variant pathogenicity by integrating variant-level features and patient-level clinical and genomic contexts, achieving high accuracy.

The paper introduces a gene-based Hardy-Weinberg equilibrium test (gene-HWT) to identify cancer-related genes by aggregating SNP-level HWE statistics, finding novel genes and variants associated with cancer.

This study identifies biallelic PNPLA8 variants causing microcephaly by reducing basal radial glia in cerebral organoids and disrupting phospholipid metabolism.

The paper analyzes splicing QTLs focusing on coding sequences to identify disease-causal variants associated with GWAS traits through novel integration and selection approaches.

The paper reports in silico structural analysis of ethnic-specific PAX4 variants associated with type 2 diabetes in a Japanese population.

This study uses GWAS to identify Mendelian and non-Mendelian variants associated with retinitis pigmentosa, uncovering new genetic causes and therapeutic targets.

The paper identifies a common variant in the Japanese population that shows quasi-Mendelian inheritance patterns in rare retinal ciliopathy.