A variant in HMMR/HMMR-AS1 is associated with serum alanine aminotransferase levels in the Ryukyu population

Noriko Ohyama, Masatoshi Matsunami, Minako Imamura, et al.

• PMID: 39987337

Mosaic loss of chromosome Y characterises late-onset rheumatoid arthritis and contrasting associations of polygenic risk score based on age at onset

Shunsuke Uchiyama, Yuki Ishikawa, Katsunori Ikari, et al.

• PMID: 39986957

Contribution of germline and somatic mutations to risk of neuromyelitis optica spectrum disorder

Tomohiro Yata, Go Sato, Kotaro Ogawa, et al.

• PMID: 39986280

Genetic analysis of myeloid neoplasms with der(1;7)(q10;p10)

Rurika Okuda, Yotaro Ochi, Ryunosuke Saiki, et al.

PMID: 39715854

Population-specific reference panel improves imputation quality for genome-wide association studies conducted on the Japanese population

Jack Flanagan, Xiaoxi Liu, David Ortega-Reyes, et al.

• PMID: 39702642

Cancer and disease profiles for PTEN pathogenic variants in Japanese population

Yuki Kanazashi, Yoshiaki Usui, Yusuke Iwasaki, et al.

• PMID: 39663357

Polygenic risk score and lung adenocarcinoma risk among never-smokers by EGFR mutation status-a brief report

Batel Blechter, Chao Agnes Hsiung, Xiaoyu Wang, et al.

• PMID: 39581378

Genetic legacy of ancient hunter-gatherer Jomon in Japanese populations

Kenichi Yamamoto, Shinichi Namba, Kyuto Sonehara, et al.

• PMID: 39532881

Genomic variants associated with age at diagnosis of childhood-onset type 1 diabetes

Pierre Bougnères, Sophie Le Fur, Yoichiro Kamatani, et al.

• PMID: 38982180

A genome-wide association analysis reveals new pathogenic pathways in gout

Tanya J. Major, Riku Takei, Hirotaka Matsuo, et al.

• PMID: 39406924

Inconsistent embryo selection across polygenic score methods

Shinichi Namba, Masato Akiyama, Haruka Hamanoue, et al.

• PMID: 39402258

Artificial intelligence in medical genomics

Yoichiro Kamatani and Tadashi Kaname.

• PMID: 39192016

Population-specific putative causal variants shape quantitative traits

Satoshi Koyama, Xiaoxi Liu, Yoshinao Koike, et al.

• PMID: 39363016

Genotype imputation methods for whole and complex genomic regions utilizing deep learning technology

Tatsuhiko Naito and Yukinori Okada.

• PMID: 38225263

Statistically and functionally fine-mapped blood eQTLs and pQTLs from 1,405 humans reveal distinct regulation patterns and disease relevance

Qingbo S. Wang, Takanori Hasegawa, Ho Namkoong, et al.

• PMID: 39317738

Genome-wide association studies for pelvic organ prolapse in the Japanese population

Masatoshi Matsunami, Minako Imamura, Asuka Ashikari, et al.

• PMID: 39349682

Machine learning reveals heterogeneous associations between environmental factors and cardiometabolic diseases across polygenic risk scores

Tatsuhiko Naito, Kosuke Inoue, Shinichi Namba, et al.

• PMID: 39304733

Large-scale cross-trait genetic analysis highlights shared genetic backgrounds of autoimmune diseases

Yuji Yamamoto, Yuya Shirai, Ryuya Edahiro, et al.

• PMID: 39171621

Primary Aldosteronism and Risk of Cardiovascular Outcomes: Genome‐Wide Association and Mendelian Randomization Study

Kosuke Inoue, Tatsuhiko Naito, Ryosuke Fuji, et al.

• PMID: 39101507

Causal relevance of different blood pressure traits on risk of cardiovascular diseases: GWAS and Mendelian randomisation in 100,000 Chinese adults

Alfred Pozarickij, Wei Gan, Kuang Lin, et al.

• PMID: 39048560

Quantification of escape from X chromosome inactivation with single-cell omics data reveals heterogeneity across cell types and tissues

Yoshihiko Tomofuji, Ryuya Edahiro, Kyuto Sonehara, et al.

• PMID: 39084228

Genetic Risk Stratification of Primary Open-Angle Glaucoma in Japanese Individuals

Masato Akiyama, Gen Tamiya, Kohta Fujiwara, et al.

• PMID: 39023470

Common and rare genetic variants predisposing females to unexplained recurrent pregnancy loss

Kyuto Sonehara, Yoshitaka Yano, Tatsuhiko Naito, et al.

• PMID: 39019884

Genome-wide association study on meningioma risk in Japan: a multicenter prospective study

Shuhei Yamada, Toru Umehara, Kyuto Sonehara, et al.

PMID: 39002029

Polygenic risk score for blood pressure and lifestyle factors with overall and CVD mortality: a prospective cohort study in a Japanese population

Ryosuke Fujii, Asahi Hishida, Masahiro Nakatochi, et al.

• PMID: 38961281

Understanding the genetic complexity of puberty timing across the allele frequency spectrum

Katherine A. Kentistou, Lena R. Kaisinger, Stasa Stankovic, et al.

• PMID: 38951643

Genome-Wide Association Study with Three Control Cohorts of Japanese Patients with Esotropia and Exotropia of Comitant Strabismus and Idiopathic Superior Oblique Muscle Palsy

Toshihiko Matsuo, Ichiro Hamasaki, Yoichiro Kamatani, et al.

• PMID: 39000095

KEAP1–NRF2 system regulates age-related spermatogenesis dysfunction

Sohei Kuribayashi, Shinichiro Fukuhara, Hiroaki Kitakaze, et al.

• PMID: 38915913

Genetic Risk, Healthy Lifestyle Adherence, and Risk of Developing Diabetes in the Japanese Population

Masato Takase, Naoki Nakaya, Tomohiro Nakamura, et al.

• PMID: 38910120

Protocol for genome-wide association study of human blood metabolites

Takeshi Iwasaki, Yoichiro Kamatani, Kazuhiro Sonomura, et al.

• PMID: 38700977

RNF213 Variants, Vasospastic Angina, and Risk of Fatal Myocardial Infarction

Keiko Hikino, Satoshi Koyama, Kaoru Ito, et al.

• PMID: 38888930

A unified framework for estimating country-specific cumulative incidence for 18 diseases stratified by polygenic risk

Bradley Jermy, Kristi Läll, Brooke N. Wolford, et al.

• PMID: 38866767

Genetically proxied HTRA1 protease activity and circulating levels independently predict risk of ischemic stroke and coronary artery disease

Rainer Malik, Nathalie Beaufort, Jiang Li, et al.

• PMID: 39196222

Body mass index stratification optimizes polygenic prediction of type 2 diabetes in cross-biobank analyses

Takafumi Ojima, Shinichi Namba, Ken Suzuki, et al.

• PMID: 38862855

Genetic variants for head size share genes and pathways with cancer

Maria J. Knol, Raymond A. Poot, Tavia E. Evans, et al.

• PMID: 38703765

Identification of an novel genetic variant associated with osteoporosis: insights from the Taiwan Biobank Study

Yi-Ching Liaw, Koichi Matsuda and Yung-Po Liaw.

• PMID: 38655459

Fine-mapping analysis including over 254,000 East Asian and European descendants identifies 136 putative colorectal cancer susceptibility genes

Zhishan Chen, Xingyi Guo, Ran Tao, et al.

• PMID: 38670944

Multi-ancestry genome-wide association study of kidney cancer identifies 63 susceptibility regions

Mark P. Purdue, Diptavo Dutta, Mitchell J. Machiela, et al.

• PMID: 38671320

Decoding triancestral origins, archaic introgression, and natural selection in the Japanese population by whole-genome sequencing

Xiaoxi Liu, Satoshi Koyama, Kohei Tomizuka, et al.

• PMID: 38630824

Poor accuracy and sustainability of the first-step FIB4 EASL pathway for stratifying steatotic liver disease risk in the general population

Antonio De Vincentis, Federica Tavaglione, Shinichi Namba, et al.

• PMID: 38497224

Genetic drivers of heterogeneity in type 2 diabetes pathophysiology

Ken Suzuki, Konstantinos Hatzikotoulas, Lorraine Southam, et al.

• PMID: 38374256

Novel ancestry-specific primary open-angle glaucoma loci and shared biology with vascular mechanisms and cell proliferation

Valeria Lo Faro, Arjun Bhattacharya, Wei Zhou, et al.

• PMID: 38382466

GWAS for systemic sclerosis identifies six novel susceptibility loci including one in the Fcγ receptor region

Yuki Ishikawa, Nao Tanaka, Yoshihide Asano, et al.

• PMID: 38296975

Multi-trait analysis characterizes the genetics of thyroid function and identifies causal associations with clinical implications

Rosalie B. T. M. Sterenborg, Inga Steinbrenner, Yong Li, et al.

• PMID: 38291025

Genetic architecture of alcohol consumption identified by a genotype-stratified GWAS and impact on esophageal cancer risk in Japanese people

Yuriko N. Koyanagi, Masahiro Nakatochi, Shinichi Namba, et al.

• PMID: 38277453

X-chromosome and kidney function: evidence from a multi-trait genetic analysis of 908,697 individuals reveals sex-specific and sex-differential findings in genes regulated by androgen response elements

Markus Scholz, Katrin Horn, Janne Pott, et al.

• PMID: 38233393

Multi-ancestry genome-wide association study of major depression aids locus discovery, fine mapping, gene prioritization and causal inference

Xiangrui Meng, Georgina Navoly, Olga Giannakopoulou, et al.

• PMID: 38177345

Genetic risk score of cerebral infarction in atrial fibrillation genome-wide association study

Yusuke Ebana, Lian Liu, Kensuke Ihara, et al.

• PMID: 37638535

East Asian-specific and cross-ancestry genome-wide meta-analyses provide mechanistic insights into peptic ulcer disease

Yunye He, Masaru Koido, Yoichi Sutoh, et al.

• PMID: 38036781

Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants

Anqi Wang, Jiayi Shen, Alex A. Rodriguez, et al.

• PMID: 37945903