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Initiatives & Research
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.
Cancer and disease profiles for PTEN pathogenic variants in Japanese population
Yuki Kanazashi, Yoshiaki Usui, Yusuke Iwasaki, et al.
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.
Genetic legacy of ancient hunter-gatherer Jomon in Japanese populations
Kenichi Yamamoto, Shinichi Namba, Kyuto Sonehara, et al.
Genomic variants associated with age at diagnosis of childhood-onset type 1 diabetes
Pierre Bougnères, Sophie Le Fur, Yoichiro Kamatani, et al.
A genome-wide association analysis reveals new pathogenic pathways in gout
Tanya J. Major, Riku Takei, Hirotaka Matsuo, et al.
Inconsistent embryo selection across polygenic score methods
Shinichi Namba, Masato Akiyama, Haruka Hamanoue, et al.
Artificial intelligence in medical genomics
Yoichiro Kamatani and Tadashi Kaname.
Population-specific putative causal variants shape quantitative traits
Satoshi Koyama, Xiaoxi Liu, Yoshinao Koike, et al.
Genotype imputation methods for whole and complex genomic regions utilizing deep learning technology
Tatsuhiko Naito and Yukinori Okada.
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.
Genome-wide association studies for pelvic organ prolapse in the Japanese population
Masatoshi Matsunami, Minako Imamura, Asuka Ashikari, et al.
Machine learning reveals heterogeneous associations between environmental factors and cardiometabolic diseases across polygenic risk scores
Tatsuhiko Naito, Kosuke Inoue, Shinichi Namba, et al.
Large-scale cross-trait genetic analysis highlights shared genetic backgrounds of autoimmune diseases
Yuji Yamamoto, Yuya Shirai, Ryuya Edahiro, et al.
Primary Aldosteronism and Risk of Cardiovascular Outcomes: Genome‐Wide Association and Mendelian Randomization Study
Kosuke Inoue, Tatsuhiko Naito, Ryosuke Fuji, et al.
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.
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.
Genetic Risk Stratification of Primary Open-Angle Glaucoma in Japanese Individuals
Masato Akiyama, Gen Tamiya, Kohta Fujiwara, et al.
Common and rare genetic variants predisposing females to unexplained recurrent pregnancy loss
Kyuto Sonehara, Yoshitaka Yano, Tatsuhiko Naito, et al.
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.
Understanding the genetic complexity of puberty timing across the allele frequency spectrum
Katherine A. Kentistou, Lena R. Kaisinger, Stasa Stankovic, et al.
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.
KEAP1–NRF2 system regulates age-related spermatogenesis dysfunction
Sohei Kuribayashi, Shinichiro Fukuhara, Hiroaki Kitakaze, et al.
Genetic Risk, Healthy Lifestyle Adherence, and Risk of Developing Diabetes in the Japanese Population
Masato Takase, Naoki Nakaya, Tomohiro Nakamura, et al.
Protocol for genome-wide association study of human blood metabolites
Takeshi Iwasaki, Yoichiro Kamatani, Kazuhiro Sonomura, et al.
RNF213 Variants, Vasospastic Angina, and Risk of Fatal Myocardial Infarction
Keiko Hikino, Satoshi Koyama, Kaoru Ito, et al.
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.
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.
Body mass index stratification optimizes polygenic prediction of type 2 diabetes in cross-biobank analyses
Takafumi Ojima, Shinichi Namba, Ken Suzuki, et al.
Genetic variants for head size share genes and pathways with cancer
Maria J. Knol, Raymond A. Poot, Tavia E. Evans, et al.
Identification of an novel genetic variant associated with osteoporosis: insights from the Taiwan Biobank Study
Yi-Ching Liaw, Koichi Matsuda and Yung-Po Liaw.
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.
Multi-ancestry genome-wide association study of kidney cancer identifies 63 susceptibility regions
Mark P. Purdue, Diptavo Dutta, Mitchell J. Machiela, et al.
Decoding triancestral origins, archaic introgression, and natural selection in the Japanese population by whole-genome sequencing
Xiaoxi Liu, Satoshi Koyama, Kohei Tomizuka, et al.
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.
Genetic drivers of heterogeneity in type 2 diabetes pathophysiology
Ken Suzuki, Konstantinos Hatzikotoulas, Lorraine Southam, et al.
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.
GWAS for systemic sclerosis identifies six novel susceptibility loci including one in the Fcγ receptor region
Yuki Ishikawa, Nao Tanaka, Yoshihide Asano, et al.
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.
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.
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.
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.
Genetic risk score of cerebral infarction in atrial fibrillation genome-wide association study
Yusuke Ebana, Lian Liu, Kensuke Ihara, et al.
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.
Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants
Anqi Wang, Jiayi Shen, Alex A. Rodriguez, et al.
A large-scale microRNA transcriptome-wide association study identifies two susceptibility microRNAs, miR-1307-5p and miR-192-3p, for colorectal cancer risk
Zhishan Chen, Weiqiang Lin, Qiuyin Cai, et al.
Extracting immunological and clinical heterogeneity across autoimmune rheumatic diseases by cohort-wide immunophenotyping
Hiroaki Tanaka, Yukinori Okada, Shingo Nakayamada, et al.
Identification of telomere maintenance gene variations related to lung adenocarcinoma risk by genome-wide association and whole genome sequencing analyses
Kouya Shiraishi, Atsushi Takahashi, Yukihide Momozawa, et al.
