This study identifies genetic loci associated with social isolation in a Japanese population using GWAS, finding associations with ACADSB, HMX3, LINC02315, and LRFN5.

Translational Psychiatry · Feb 17, 2026Peer-reviewedGenetic & Genomic Medicine

Novel candidates of pathogenic variants of the BRCA1 and BRCA2 genes in a 3,552 Japanese whole-genome sequence dataset (3.5KJPNv2)

Hideki Tokunaga, Keita Iida, Atsushi Hozawa, Soichi Ogishima, Yoh Watanabe, Shogo Shigeta, Muneaki Shimada, Yumi Yamaguchi‐Kabata, Shu Tadaka, Fumiki Katsuoka, Shin Ito, Kazuki Kumada, Yohei Hamanaka, Nobuo Fuse, Kengo Kinoshita, , Jun Yasuda

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

PLoS ONE · Jan 11, 2021Peer-reviewedGenetics

Clustering by phenotype and genome-wide association study in autism

Akira Narita, Masato Nagai, Satoshi Mizuno, Soichi Ogishima, Gen Tamiya, Masao Ueki, Rieko Sakurai, Satoshi Makino, Taku Obara, Mami Ishikuro, Chizuru Yamanaka, Hiroko Matsubara, Yasutaka Kuniyoshi, Keiko Murakami, Fumihiko Ueno, , Shinichi Kuriyama

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

Translational Psychiatry · Aug 17, 2020Peer-reviewedNeuroscience

Transethnic meta-analysis of genome-wide association studies identifies three new loci and characterizes population-specific differences for coronary artery disease

Hiroshi Matsunaga, Kaoru Ito, Masato Akiyama, Atsushi Takahashi, Satoshi Koyama, Seitaro Nomura, Hirotaka Ieki, Kouichi Ozaki, Yoshihiro Onouchi, Saori Sakaue, Shinichiro Suna, Soichi Ogishima, Masayuki P. Yamamoto, Atsushi Hozawa, Mamoru Satoh, , Issei Komuro

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

Circulation Genomic and Precision Medicine · May 29, 2020Peer-reviewedGenetics

3.5KJPNv2, An allele frequency panel of 3,552 Japanese Individuals

Shu Tadaka, Fumiki Katsuoka, Masao Ueki, Kaname Kojima, Satoshi Makino, Sakae Saito, Akihito Otsuki, Chinatsu Gocho, Mika Sakurai‐Yageta, Inaho Danjoh, Ikuko N. Motoike, Yumi Yamaguchi‐Kabata, Matsuyuki Shirota, S. Koshiba, Masao Nagasaki, , Kengo Kinoshita

The paper constructs a population-level allele frequency panel of 3,552 Japanese individuals using a standardized pipeline and makes it publicly available.

bioRxiv · Jan 25, 2019 · PreprintGenomics