Genomic and transcriptomic analyses of aortic stenosis enhance therapeutic target discovery and disease prediction

Aeron M. Small, Ta-Yu Yang, Shinsuke Itoh, et al.

• PMID: 41419686

Revisiting the impact of BRCA1 pathogenic variants on the aggressiveness of prostate cancer

Hajime Sasagawa, Shintaro Narita, Koichi Matsuda, et al.

• PMID: 41423785

Germline variants of the POLH and RAD51 genes are candidate variants associated with risk of hormone receptor-negative young-onset breast cancer

Shu Yazaki, Rui Kitadai, Yukihide Momozawa, et al.

• PMID: 41315479

Proteogenomics in cerebrospinal fluid and plasma reveals new biological fingerprint of cerebral small vessel disease

Ilana Caro, Daniel Western, Shinichi Namba, et al.

• PMID: 41266628

The Association between Genetically Predicted C-Reactive Protein Levels and Risk of Colorectal Cancer in an East Asian Population: Two-Sample Mendelian Randomization

Chang Kyun Choi, Jung-Ho Yang, Min-Ho Shin, et al.

• PMID: 41236733

Pan-cancer prevalence, risk, and clinical and demographic characteristics of Lynch Syndrome-associated variants in BioBank Japan

Keijiro Mizukami, Yoshiaki Usui, Yusuke Iwasaki, et al.

• PMID: 41258140

Whole-genome sequencing of 3135 individuals representing the genetic diversity of the Japanese population

Koichiro Higasa, Yoichiro Kamatani, Takahisa Kawaguchi, et al.

• PMID: 41206389

Genome-wide analysis of heart failure yields insights into disease heterogeneity and enables prognostic prediction in the Japanese population

Nobuyuki Enzan, Kazuo Miyazawa, Satoshi Koyama, et al.

• PMID: 41184235

Stratifying lung adenocarcinoma risk with multi-ancestry polygenic risk scores in East Asian never-smokers

Batel Blechter, Xiaoyu Wang, Juncheng Dai, et al.

• PMID: 41032288

Sex differences in subtypes, risk profiles, and mortality for cancer among 19,702 Japanese patients with ischemic stroke: A cohort from BioBank Japan

Takashi Shimoyama, Yoichiro Kamatani, Koichi Matsuda, et al.

• PMID: 40935173

Effect of healthy lifestyle on renal dysfunction risk: interactions with genetic risk

Masato Takase, Naoki Nakaya, Mana Kogure, et al.

• PMID: 41127238

Case-Control Study for 23 Cancer Types With Functional Analysis of CHEK2: Risk Estimation and Clinical Recommendations in East Asia

Yuri Takehara, Yoshiaki Usui, Lenka Stolařová, et al.

• PMID: 40893051

Identification and replication of sex-dimorphic protein quantitative trait loci across multiple ancestries and their associations with diseases

Youngjune Bhak, Vasilis Raptis, Yunye He, et al.

• PMID: 40877285

Whole-genome sequencing reveals rare and structural variants contributing to psoriasis and identifies CERCAM as a risk gene

Kyuto Sonehara, Rei Watanabe, Yutaka Matsumura, et al.

• PMID: 40848718

Association of circulating metabolites and polygenic risk score with incident type 2 diabetes: a prospective community-based cohort study

Masato Takase, Naoki Nakaya, Mana Kogure, et al.

• PMID: 40813662

Local radiotherapy for cancer patients is associated with mosaic loss of chromosome Y, a hallmark of male aging

Takuro Kobayashi, Tsuyoshi Hachiya, Yan Lu, et al.

• PMID: 40730558

Deciphering state-dependent immune features from multi-layer omics data at single-cell resolution

Ryuya Edahiro, Go Sato, Tatsuhiko Naito, et al.

• PMID: 40721531

Polygenic prediction of body mass index and obesity through the life course and across ancestries

Roelof A. J. Smit, Kaitlin H. Wade, Qin Hui, et al.

• PMID: 40691366

Integrating multi-ancestry genomic and proteomic data to identify blood risk biomarkers and target proteins for breast cancer genetic risk loci

Guochong Jia, Jie Ping, Ran Tao, et al.

• PMID: 40658085

A POLR1D-regulating single-nucleotide polymorphism as a predictive marker candidate for platinum-based chemotherapy in gastrointestinal cancers

Takahiro Mori, Kazuko Ueno, Masao Nagasaki, et al.

• PMID: 40661991

Clinical Significance of TP53-Mutant Clonal Hematopoiesis Across Diseases

Yoshiaki Usui, Mikiko Endo, Yusuke Iwasaki, et al.

• PMID: 40525786

Genomic profiles of pathogenic and moderate-penetrance germline variants associated with risk of early-onset lung adenocarcinoma

Hourin Cho, Kouya Shiraishi, Kuniko Sunami, et al.

• PMID: 40516820

Impact of germline variants on breast and ovarian cancer risk in Japanese women: an original cohort study and meta-analysis

Shu Yazaki, Megumi Hori, Hisaki Aiba, et al.

• PMID: 40403695

The contribution of gametic phase disequilibrium to the heritability of complex traits

Yuanxiang Zhang, Saori Sakaue, Sam Morris, et al.

• PMID: 40389611

Genetic risk, lifestyle adherence, and risk of developing hyperuricaemia in a Japanese population

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

• PMID: 39271169

Dissecting cross-population polygenic heterogeneity across respiratory and cardiometabolic diseases

Yuji Yamamoto, Yuya Shirai, Kyuto Sonehara, et al.

• PMID: 40295474

A genome-wide meta-analysis reveals shared and population-specific variants for allergic sensitization

Emiko Noguchi, Wataru Morii, Haruna Kitazawa, et al.

• PMID: 39644933

Recurrent Stroke Prediction by Applying a Stroke Polygenic Risk Score in the Japanese Population

Naoki Kojima, Masaru Koido, Yunye He, et al.

• PMID: 40135360

Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases

Carolina Roselli, Ida Surakka, Morten S. Olesen, et al.

• PMID: 40050429

Germline variants and mosaic chromosomal alterations affect COVID-19 vaccine immunogenicity

Kyuto Sonehara, Yoshifumi Uwamino, Ryunosuke Saiki, et al.

• PMID: 40043710

Increased somatic mosaicism in autosomal and X chromosomes for suicide death

Ikuo Otsuka, Shunsuke Uchiyama, Toshiyuki Shirai, et al.

• PMID: 39215187

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

Genomics yields biological and phenotypic insights into bipolar disorder

Kevin S. O'Connell, Maria Koromina, Tracey van der Veen, et al.

• PMID: 39843750

Trans-ancestry genome-wide study of depression identifies 697 associations implicating cell types and pharmacotherapies

Mark J Adams, Fabian Streit, Xiangrui Meng, et al.

• PMID: 39814019

Refining breast cancer genetic risk and biology through multi-ancestry fine-mapping analyses of 192 risk regions

Guochong Jia, Zhishan Chen, Jie Ping, et al.

• PMID: 39753771

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