Initiatives & Research Initiatives & Research

Initiatives & Research

List of Publications

2022

Developing and validating polygenic risk scores for colorectal cancer risk prediction in East Asians

Jie Ping, Yaohua Yang, Wanqing Wen, et al.

2022

Multi-trait and cross-population genome-wide association studies across autoimmune and allergic diseases identify shared and distinct genetic component

Yuya Shirai, Yoshimitsu Nakanishi, Akari Suzuki, et al.

2022

Association of germline TYK2 variation with lung cancer and non-Hodgkin lymphoma risk

James Yarmolinsky, Christopher I. Amos, Rayjean J. Hung, et al.

2022

Different risk genes contribute to clear cell and non-clear cell renal cell carcinoma in 1532 Japanese patients and 5996 controls

Yuya Sekine, Yusuke Iwasaki, Tomomi Aoi, et al.

2022

Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals

Thomas W. Winkler, Humaira Rasheed, Alexander Teumer, et al.

2022

Large-scale Integrated Analysis of Genetics and Metabolomic Data Reveals Potential Links Between Lipids and Colorectal Cancer Risk

Xiang Shu, Zhishan Chen, Jirong Long, et al.

2022

Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

Anubha Mahajan, Cassandra N. Spracklen, Weihua Zhang, et al.

2022

Biological insights into systemic lupus erythematosus through an immune cell-specific transcriptome-wide association study

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

2022

A polygenic risk score improves risk stratification of coronary artery disease: a large-scale prospective Chinese cohort study

Xiangfeng Lu, Zhongying Liu, Qingmei Cui, et al.

2022

Leveraging fine-mapping and multipopulation training data to improve cross-population polygenic risk scores

Omer Weissbrod, Masahiro Kanai, Huwenbo Shi, et al.

2022

Mapping genomic loci implicates genes and synaptic biology in schizophrenia

Vassily Trubetskoy, Antonio F. Pardiñas, Ting Qi, et al.

2022

Editorial: Current Status and Future Challenges of Biobank Data Analysis

Tzu-Pin Lu, Yoichiro Kamatani, Gillian Belbin, et al.

2022

Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants

Yukihide Momozawa, Rumi Sasai, Yoshiaki Usui, et al.

2022

Genome-wide risk prediction of common diseases across ancestries in one million people

Nina Mars, Sini Kerminen, Yen-Chen A. Feng, et al.

2022

Response to Comment on Dawed et al. Genome-Wide Meta-analysis Identifies Genetic Variants Associated With Glycemic Response to Sulfonylureas. Diabetes Care 2021;44:2673-2682

Adem Y. Dawed, Sook Wah Yee, Kaixin Zhou, et al.

2022

Genome-wide association study of colorectal polyps identified highly overlapping polygenic architecture with colorectal cancer

Keiko Hikino, Masaru Koido, Nao Otomo, et al.

2022

Federated analysis of BRCA1 and BRCA2 variation in a Japanese cohort

James Casaletto, Michael Parsons, Charles Markello, et al.

2022

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.

2022

[Cohorts and Biobanks as Essential Resources for Cancer Research]

Yoshinori Murakami.

2022

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.

2022

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

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

2021

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

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

2021

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.

2021

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

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

2021

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.

2021

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.

2021

Genetic insights into biological mechanisms governing human ovarian ageing

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

2021

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.

2021

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

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

2021

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.

2021

Genetics of autosomal mosaic chromosomal alteration (mCA)

Xiaoxi Liu, Yoichiro Kamatani and Chikashi Terao.

2021

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

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

2021

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

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

2021

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.

2021

Cancer-associated miRNAs and their therapeutic potential

Jun Inoue and Johji Inazawa.

2021

Eight novel susceptibility loci and putative causal variants in atopic dermatitis

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

2021

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

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

2021

Genetic analyses identify widespread sex-differential participation bias

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

2021

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.

2021

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.

2021

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

Kyuto Sonehara and Yukinori Okada.

2021

Genome-wide analysis identifies novel susceptibility loci for myocardial infarction

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

2021

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

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

2021

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.

2021

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.

2020

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

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

2020

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.

2020

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

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

2020

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

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

2020

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.