Kyushu University · Biochemistry, Genetics and Molecular Biology
Professor Masato Akiyama's research lab specializes in statistical genetics and genomic medicine, with a focus on dissecting the genetic architecture of complex human traits, particularly human height. The lab integrates whole-genome sequencing data from diverse populations—especially East Asian cohorts such as the Japanese—to identify rare and low-frequency genetic variants associated with complex phenotypes. By developing high-coverage reference panels and applying advanced imputation and association methods, the lab advances the understanding of genetic contributions to human variation and disease susceptibility. Their work emphasizes population-specific genetic insights and the functional implications of non-common variants in complex trait genetics.
Figures are computed from collected data and may differ slightly.
Human height is a representative phenotype to elucidate genetic architecture. However, the majority of large studies have been performed in European population. To investigate the rare and low-frequency variants associated with height, we construct a reference panel (N = 3,541) for genotype imputation by integrating the whole-genome sequence data from 1,037 Japanese with that of the 1000 Genomes Project, and perform a genome-wide association study in 191,787 Japanese. We report 573 height-associ
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