Whole exome analysis of patients in Japan with hearing loss reveals high heterogeneity among responsible and novel candidate genes

Hideki Mutai, Yukihide Momozawa, Yoichiro Kamatani, et al.

• PMID: 35248088

[Cohorts and Biobanks as Essential Resources for Cancer Research]

Yoshinori Murakami.

• PMID: 35249044

A single-nucleotide-polymorphism in the 5′-flanking region of MSX1 gene as a predictive marker candidate for platinum-based therapy of esophageal carcinoma

Takahiro Mori, Kazuko Ueno, Katsushi Tokunaga, et al.

• PMID: 35251318

Trans-ethnic Mendelian-randomization study reveals causal relationships between cardiometabolic factors and chronic kidney disease

Jie Zheng, Yuemiao Zhang, Humaira Rasheed, et al.

• PMID: 34999880

The power of genetic diversity in genome-wide association studies of lipids

Sarah E. Graham, Shoa L. Clarke, Kuan-Han H. Wu, et al.

• PMID: 34887591

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.

• PMID: 34950780

A cross-population atlas of genetic associations for 220 human phenotypes

Saori Sakaue, Masahiro Kanai, Yosuke Tanigawa, et al.

• PMID: 34594039

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.

• PMID: 34268601

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.

• PMID: 34593835

Genetic insights into biological mechanisms governing human ovarian ageing

Katherine S. Ruth, Felix R. Day, Jazib Hussain, et al.

• PMID: 34349265

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.

• PMID: 34497603

All-cause and cardiovascular disease mortality in underweight patients with diabetic nephropathy: BioBank Japan cohort

Hiroshi Yokomichi, Mie Mochizuki, Makoto Hirata, et al.

• PMID: 33340268

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.

• PMID: 34392144

Genetics of autosomal mosaic chromosomal alteration (mCA)

Xiaoxi Liu, Yoichiro Kamatani and Chikashi Terao.

• PMID: 34321609

Combined landscape of single-nucleotide variants and copy number alterations in clonal hematopoiesis

Ryunosuke Saiki, Yukihide Momozawa, Yasuhito Nannya, et al.

• PMID: 34239136

Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection

Seyedeh M. Zekavat, Shu-Hong Lin, Alexander G. Bick, et al.

• PMID: 34099924

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.

• PMID: 34099641

Cancer-associated miRNAs and their therapeutic potential

Jun Inoue and Johji Inazawa.

• PMID: 34088973

Eight novel susceptibility loci and putative causal variants in atopic dermatitis

Nao Tanaka, Masaru Koido, Akari Suzuki, et al.

• PMID: 34116867

Meta-analysis of 208370 East Asians identifies 113 susceptibility loci for systemic lupus erythematosus

Xianyong Yin, Kwangwoo Kim, Hiroyuki Suetsugu, et al.

• PMID: 33272962

Genetic analyses identify widespread sex-differential participation bias

Nicola Pirastu, Mattia Cordioli, Priyanka Nandakumar, et al.

• PMID: 33888908

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.

• PMID: 33944914

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.

• PMID: 33712626

Obelisc: an identical-by-descent mapping tool based on SNP streak

Kyuto Sonehara and Yukinori Okada.

• PMID: 3135050

Genome-wide analysis identifies novel susceptibility loci for myocardial infarction

Jaana A. Hartiala, Yi Han, Qiong Jia, et al.

• PMID: 33532862

Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries

Puya Gharahkhani, Eric Jorgenson, Pirro Hysi, et al.

• PMID: 33627673

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.

• PMID: 33462486

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.

• PMID: 33495571

Germline pathogenic variants in 7,636 Japanese patients with prostate cancer and 12,366 controls

Yukihide Momozawa, Yusuke Iwasaki, Makoto Hirata, et al.

• PMID: 31214711

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.

• PMID:33199917

Evidence of Polygenic Adaptation in Sardinia at Height-Associated Loci Ascertained from the Biobank Japan

Minhui Chen, Carlo Sidore, Masato Akiyama, et al.

• PMID:32533944

Association of the RPA3-UMAD1 locus with interstitial lung diseases complicated with rheumatoid arthritis in Japanese

Yuya Shirai, Suguru Honda, Katsunori Ikari, et al.

• PMID:32737115

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.

• PMID:31646624

SHROOM3, the gene associated with chronic kidney disease, affects the podocyte structure

Ryo Matsuura, Atsuko Hiraishi, Lawrence B. Holzman, et al.

• PMID:33273487

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.

• PMID:33119109

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.

• PMID:33532618

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.

• PMID:32888493

The Polygenic and Monogenic Basis of Blood Traits and Diseases

Dragana Vuckovic, Erik L. Bao, Parsa Akbari, et al.

• PMID:32888494

Claudin-2 deficiency associates with hypercalciuria in mice and human kidney stone disease

Joshua N. Curry, Matthew Saurette, Masomeh Askari, et al.

• PMID:32149733

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.

• PMID:32238385

Genome-wide association meta-analysis identifies GP2 gene risk variants for pancreatic cancer

Yingsong Lin, Masahiro Nakatochi, Yasuyuki Hosono, et al.

• PMID:32581250

Endogenization and excision of human herpesvirus 6 in human genomes

Xiaoxi Liu, Shunichi Kosugi, Rie Koide, et al.

• PMID:32776928

A multi-ethnic meta-analysis identifies novel genes, including ACSL5, associated with amyotrophic lateral sclerosis

Ryoichi Nakamura, Kazuharu Misawa, Genki Tohnai, et al.

• PMID:32968195

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.

• PMID:32980694

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.

• PMID:33020668

Chromosomal alterations among age-related haematopoietic clones in Japan

Chikashi Terao, Akari Suzuki, Yukihide Momozawa, et al.

• PMID:32581364

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.

• PMID:32469254

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.

• PMID: 32514122

Dimensionality reduction reveals fine-scale structure in the Japanese population with consequences for polygenic risk prediction

Saori Sakaue, Jun Hirata, Masahiro Kanai, et al.

• PMID: 32218440

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.

• PMID: 32251405