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Initiatives & Research
Trans-ethnic Mendelian-randomization study reveals causal relationships between cardiometabolic factors and chronic kidney disease
Jie Zheng, Yuemiao Zhang, Humaira Rasheed, et al.
The power of genetic diversity in genome-wide association studies of lipids
Sarah E. Graham, Shoa L. Clarke, Kuan-Han H. Wu, et al.
Genetic susceptibility to hepatocellular carcinoma in chromosome 22q13.31, findings of a genome-wide association study
Zhanwei Wang, Anuradha S. Budhu, Yi Shen, et al.
A cross-population atlas of genetic associations for 220 human phenotypes
Saori Sakaue, Masahiro Kanai, Yosuke Tanigawa, et al.
Genetic analyses of gynecological disease identify genetic relationships between uterine fibroids and endometrial cancer, and a novel endometrial cancer genetic risk region at the WNT4 1p36.12 locus
Pik Fang Kho, Sally Mortlock, Endometrial Cancer Association Consortium, et al.
A genome-wide association study identifies a novel candidate locus at the DLGAP1 gene with susceptibility to resistant hypertension in the Japanese population
Yasuo Takahashi, Keiko Yamazaki, Yoichiro Kamatani, et al.
Genetic insights into biological mechanisms governing human ovarian ageing
Katherine S. Ruth, Felix R. Day, Jazib Hussain, et al.
Intracellular Accumulation of IFN-λ4 Induces ER Stress and Results in Anti-Cirrhotic but Pro-HCV Effects
Olusegun O. Onabajo, Fang Wang, Mei-Hsuan Lee, et al.
All-cause and cardiovascular disease mortality in underweight patients with diabetic nephropathy: BioBank Japan cohort
Hiroshi Yokomichi, Mie Mochizuki, Makoto Hirata, et al.
Susceptibility loci and polygenic architecture highlight population specific and common genetic features in inguinal hernias: genetics in inguinal hernias
Keiko Hikino, Masaru Koido, Kohei Tomizuka, et al.
Genetics of autosomal mosaic chromosomal alteration (mCA)
Xiaoxi Liu, Yoichiro Kamatani and Chikashi Terao.
Combined landscape of single-nucleotide variants and copy number alterations in clonal hematopoiesis
Ryunosuke Saiki, Yukihide Momozawa, Yasuhito Nannya, et al.
Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection
Seyedeh M. Zekavat, Shu-Hong Lin, Alexander G. Bick, et al.
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 Ulirsch, et al.
Cancer-associated miRNAs and their therapeutic potential
Jun Inoue and Johji Inazawa.
Eight novel susceptibility loci and putative causal variants in atopic dermatitis
Nao Tanaka, Masaru Koido, Akari Suzuki, et al.
Meta-analysis of 208370 East Asians identifies 113 susceptibility loci for systemic lupus erythematosus
Xianyong Yin, Kwangwoo Kim, Hiroyuki Suetsugu, et al.
Genetic analyses identify widespread sex-differential participation bias
Nicola Pirastu, Mattia Cordioli, Priyanka Nandakumar, et al.
An X chromosome-wide meta-analysis based on Japanese cohorts revealed that non-autosomal variations are associated with serum urate
Masahiro Nakatochi, Yu Toyoda, Masahiro Kanai, et al.
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.
Obelisc: an identical-by-descent mapping tool based on SNP streak
Kyuto Sonehara and Yukinori Okada.
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.
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.
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.
Germline pathogenic variants in 7,636 Japanese patients with prostate cancer and 12,366 controls
Yukihide Momozawa, Yusuke Iwasaki, Makoto Hirata, 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.
Evidence of Polygenic Adaptation in Sardinia at Height-Associated Loci Ascertained from the Biobank Japan
Minhui Chen, Carlo Sidore, Masato Akiyama, 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.
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.
SHROOM3, the gene associated with chronic kidney disease, affects the podocyte structure
Ryo Matsuura, Atsuko Hiraishi, Lawrence B. Holzman, 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.
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.
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.
Claudin-2 deficiency associates with hypercalciuria in mice and human kidney stone disease
Joshua N. Curry, Matthew Saurette, Masomeh Askari, 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 association meta-analysis identifies GP2 gene risk variants for pancreatic cancer
Yingsong Lin, Masahiro Nakatochi, Yasuyuki Hosono, et al.
Endogenization and excision of human herpesvirus 6 in human genomes
Xiaoxi Liu, Shunichi Kosugi, Rie Koide, 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.
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.
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.
Chromosomal alterations among age-related haematopoietic clones in Japan
Chikashi Terao, Akari Suzuki, Yukihide Momozawa, 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.
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.
Dimensionality reduction reveals fine-scale structure in the Japanese population with consequences for polygenic risk prediction
Saori Sakaue, Jun Hirata, Masahiro Kanai, 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.
Genetic and phenotypic landscape of the mitochondrial genome in the Japanese population
Kenichi Yamamoto, Saori Sakaue, Koichi Matsuda, et al.
Identification of type 2 diabetes loci in 433,540 East Asian individuals
Cassandra N. Spracklen, Momoko Horikoshi, Young Jin Kim, 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.
