The paper uses deep learning and genome-wide association studies to identify genetic loci associated with right heart structure and function in 40,000 individuals.

Nature Genetics · Jun 1, 2022Peer-reviewedGenetics

Leveraging fine-mapping and non-European training data to improve cross-population polygenic risk scores

Omer Weissbrod, Masahiro Kanai, Huwenbo Shi, Steven Gazal, Wouter J. Peyrot, Amit V. Khera, Yukinori Okada, The Biobank Japan Project, Koichi Matsuda, Yuji Yamanashi, Yoichi Furukawa, Takayuki Morisaki, Yoshinori Murakami, Yoichiro Kamatani, Kaori Muto, , Alkes L. Price

This paper introduces PolyPred and PolyPred+ to improve cross-population polygenic risk score accuracy by addressing LD, MAF, and causal effect size differences using fine-mapping and non-European training data.

Nature Genetics · Apr 1, 2022Peer-reviewedGenetic & Genomic Medicine

A global atlas of genetic associations of 220 deep phenotypes

Saori Sakaue, Masahiro Kanai, Yosuke Tanigawa, Juha M Karjalainen, Mitja Kurki, S. Koshiba, Akira Narita, Takahiro Konuma, Kenichi Yamamoto, Masato Akiyama, Kazuyoshi Ishigaki, Akari Suzuki, Suzuki Ken, Wataru Obara, Ken Yamaji, , Yukinori Okada

Cross-population GWAS of 220 phenotypes in BioBank Japan, UK Biobank, and FinnGen (n=628,000) identifies 5,343 previously unreported loci and decomposes summary statistics into latent genetic components for disease subtyping.

Nature Genetics · Sep 30, 2021Peer-reviewedGenetic & Genomic Medicine✦ In-depth digest

Leveraging supervised learning for functionally-informed fine-mapping of cis-eQTLs identifies an additional 20,913 putative causal eQTLs

Qingbo S. Wang, David R. Kelley, Jacob C. Ulirsch, Masahiro Kanai, Shuvom Sadhuka, Ran Cui, Carlos Albors, Nathan Cheng, Yukinori Okada, The Biobank Japan Project, Koichi Matsuda, Yuji Yamanashi, Yoichi Furukawa, Takayuki Morisaki, Yoshinori Murakami, , Hilary K. Finucane

The paper uses supervised learning to fine-map cis-eQTLs, identifying 20,913 additional putative causal eQTLs and 310 candidate genes.

Nature Communications · Jun 7, 2021Peer-reviewedGenomics

Meta-analysis of 208,370 East Asians identifies 113 genomic loci and yields new non-immune cell relevant biological insights for systemic lupus erythematosus

Xianyong Yin, Kwang-Woo Kim, Hiroyuki Suetsugu, So‐Young Bang, Leilei Wen, Masaru Koido, Eunji Ha, Lu Liu, Yuma Sakamoto, Sungsin Jo, Rui‐Xue Leng, Nao Otomo, Viktoryia Laurynenka, Young-Chang Kwon, Yujun Sheng, , Sang‐Cheol Bae

This study identifies 113 genomic loci for SLE in East Asians, including 46 novel loci, and highlights non-immune cell-related biological mechanisms.

Annals of the Rheumatic Diseases · Dec 3, 2020Peer-reviewedGenetic & Genomic Medicine

Large scale genome-wide association study in a Japanese population identified 45 novel susceptibility loci for 22 diseases

Kazuyoshi Ishigaki, Masato Akiyama, Masahiro Kanai, Atsushi Takahashi, Eiryo Kawakami, Hiroki Sugishita, Saori Sakaue, Nana Matoba, Siew‐Kee Low, Yukinori Okada, Chikashi C. Terao, Tiffany Amariuta, Steven Gazal, Yuta Kochi, Momoko Horikoshi, , Yoichiro Kamatani

A large-scale GWAS in 212,453 Japanese individuals identified 45 novel susceptibility loci for 22 diseases, highlighting the importance of non-European population studies.

Nature Genetics · Jun 8, 2020Peer-reviewedGenetics