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Initiatives & Research
A deep learning method for HLA imputation and trans-ethnic MHC fine-mapping of type 1 diabetes
Tatsuhiko Naito, Ken Suzuki, Jun Hirata, et al.
Genome-wide analysis identifies novel susceptibility loci for myocardial infarction
Jaana A. Hartiala, Yi Han, Qiong Jia, et al.
Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries
Puya Gharahkhani, Eric Jorgenson, Pirro Hysi, et al.
Genome-wide SNP data of Izumo and Makurazaki populations support inner-dual structure model for origin of Yamato people
Timothy Jinam, Yosuke Kawai, Yoichiro Kamatani, et al.
Tractor uses local ancestry to enable the inclusion of admixed individuals in GWAS and to boost power
Elizabeth G. Atkinson, Adam X. Maihofer, Masahiro Kanai, et al.
SHROOM3, the gene associated with chronic kidney disease, affects the podocyte structure
Ryo Matsuura, Atsuko Hiraishi, Lawrence B. Holzman, et al.
Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors
Mark K. Bakker, Rick A. A. van der Spek, Wouter van Rheenen, et al.
Association of the RPA3-UMAD1 locus with interstitial lung diseases complicated with rheumatoid arthritis in Japanese
Yuya Shirai, Suguru Honda, Katsunori Ikari, et al.
Prevalence and spectrum of pathogenic germline variants in Japanese patients with early-onset colorectal, breast, and prostate cancer
Xiaoxi Liu, Sadaaki Takata, Kyota Ashikawa, et al.
Population-specific and trans-ancestry genome-wide analyses identify distinct and shared genetic risk loci for coronary artery disease
Satoshi Koyama, Kaoru Ito, Chikashi Terao, et al.
Fine Mapping of the Major Histocompatibility Complex Region and Association of the HLA-B*52:01 Allele With Cervical Cancer in Japanese Women
Tatsuo Masuda, Hidemi Ito, Jun Hirata, et al.
Genetic characterization of pancreatic cancer patients and prediction of carrier status of germline pathogenic variants in cancer-predisposing genes
Keijiro Mizukami, Yusuke Iwasaki, Eiryo Kawakami, et al.
A multi-ethnic meta-analysis identifies novel genes, including ACSL5, associated with amyotrophic lateral sclerosis
Ryoichi Nakamura, Kazuharu Misawa, Genki Tohnai, et al.
Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations
Ming-Huei Chen, Laura M. Raffield, Abdou Mousas, et al.
The Polygenic and Monogenic Basis of Blood Traits and Diseases
Dragana Vuckovic, Erik L. Bao, Parsa Akbari, et al.
Cause-specific mortality rates in patients with diabetes according to comorbid macro- and microvascular complications: BioBank Japan Cohort
Hiroshi Yokomichi, Akiko Nagai, Makoto Hirata, et al.
Endogenization and excision of human herpesvirus 6 in human genomes
Xiaoxi Liu, Shunichi Kosugi, Rie Koide, et al.
Chromosomal alterations among age-related haematopoietic clones in Japan
Chikashi Terao, Akari Suzuki, Yukihide Momozawa, et al.
Evidence of Polygenic Adaptation in Sardinia at Height-Associated Loci Ascertained from the Biobank Japan
Minhui Chen, Carlo Sidore, Masato Akiyama, et al.
Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases
Kazuyoshi Ishigaki, Masato Akiyama, Masahiro Kanai, et al.
Genome-wide association meta-analysis identifies GP2 gene risk variants for pancreatic cancer
Yingsong Lin, Masahiro Nakatochi, Yasuyuki Hosono, et al.
Identification of type 2 diabetes loci in 433,540 East Asian individuals
Cassandra N. Spracklen, Momoko Horikoshi, Young Jin Kim, et al.
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, et al.
Subtype-specific gout susceptibility loci and enrichment of selection pressure on ABCG2 and ALDH2 identified by subtype genome-wide meta-analyses of clinically defined gout patients
Akiyoshi Nakayama, Masahiro Nakatochi, Yusuke Kawamura, et al.
Genome-Wide Natural Selection Signatures Are Linked to Genetic Risk of Modern Phenotypes in the Japanese Population
Yoshiaki Yasumizu, Saori Sakaue, Takahiro Konuma, et al.
HLA-B51:01 and CYP2C93 Are Risk Factors for Phenytoin-Induced Eruption in the Japanese Population: Analysis of Data From the Biobank Japan Project
Keiko Hikino, Takeshi Ozeki, Masaru Koido, et al.
Claudin-2 deficiency associates with hypercalciuria in mice and human kidney stone disease
Joshua N. Curry, Matthew Saurette, Masomeh Askari, et al.
Trans-biobank analysis with 676,000 individuals elucidates the association of polygenic risk scores of complex traits with human lifespan
Saori Sakaue, Masahiro Kanai, Juha Karjalainen, et al.
Germline pathogenic variants in 7,636 Japanese patients with prostate cancer and 12,366 controls
Yukihide Momozawa, Yusuke Iwasaki, Makoto Hirata, et al.
Dimensionality reduction reveals fine-scale structure in the Japanese population with consequences for polygenic risk prediction
Saori Sakaue, Jun Hirata, Masahiro Kanai, et al.
Genetic and phenotypic landscape of the mitochondrial genome in the Japanese population
Kenichi Yamamoto, Saori Sakaue, Koichi Matsuda, et al.
GWAS of 165,084 Japanese individuals identified nine loci associated with dietary habits
Nana Matoba, Masato Akiyama, Kazuyoshi Ishigaki, et al.
Diabetes and cancer risk: A Mendelian randomization study
Atsushi Goto, Taiki Yamaji, Norie Sawada, et al.
Identification of a novel uterine leiomyoma GWAS locus in a Japanese population
Kensuke Sakai, Chizu Tanikawa, Akira Hirasawa, et al.
GWAS of five gynecologic diseases and cross-trait analysis in Japanese
Tatsuo Masuda, Siew-Kee Low, Masato Akiyama, et al.
Comparative genetic architectures of schizophrenia in East Asian and European populations
Max Lam, Chia-Yen Chen, Zhiqiang Li, et al.
A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature
Aritoshi Iida, Kyoko Takano, Eri Takeshita, et al.
Comparison of effects of UGT1A1*6 and UGT1A1*28 on irinotecan-induced adverse reactions in the Japanese population: analysis of the Biobank Japan Project
Identification of two novel breast cancer loci through large-scale genome-wide association study in the Japanese population
Siew-Kee Low, Yoon Ming Chin, Hidemi Ito, et al.
Genetic predisposition to mosaic Y chromosome loss in blood
Deborah J. Thompson, Giulio Genovese, Jonatan Halvardson, et al.
Polygenic burden in focal and generalized epilepsies
Costin Leu, Remi Stevelink, Alexander W. Smith, et al.
Associations of autozygosity with a broad range of human phenotypes
David W. Clark, Yukinori Okada, Kristjan H. S. Moore, et al.
GWAS of mosaic loss of chromosome Y highlights genetic effects on blood cell differentiation
Chikashi Terao, Yukihide Momozawa, Kazuyoshi Ishigaki, et al.
Characterizing rare and low-frequency height-associated variants in the Japanese population
Masato Akiyama, Kazuyoshi Ishigaki, Saori Sakaue, et al.
12 new susceptibility loci for prostate cancer identified by genome-wide association study in Japanese population
Ryo Takata, Atsushi Takahashi, Masashi Fujita, et al.
Identification of rare coding variants in TYK2 protective for rheumatoid arthritis in the Japanese population and their effects on cytokine signalling
Tomoki Motegi, Yuta Kochi, Koichi Matsuda, et al.
Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect
Masashi Ikeda, Atsushi Takahashi, Yoichiro Kamatani, et al.
Construction and benchmarking of a multi-ethnic reference panel for the imputation of HLA class I and II alleles
Frauke Degenhardt, Mareike Wendorff, Michael Wittig, et al.
GWAS of smoking behaviour in 165,436 Japanese people reveals seven new loci and shared genetic architecture
Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population
Ken Suzuki, Masato Akiyama, Kazuyoshi Ishigaki, et al.
