Author

Biobank Japan

deCODE Genetics (Iceland)

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Genetic & Genomic Medicine· 4

Signature Assays, Organisms & Methods

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Research Focus:GWAS / association mapping· 4 Organism:human· 4 Approach:statistical model· 4 Assay:GWAS summary statistics· 3 Research Focus:fine-mapping· 2 Approach:Bayesian inference· 1 Approach:benchmark study· 1 Research Focus:differential expression· 1

Frequent Co-Authors

Ben Michael BrumptoniD· 2 shared Brooke N. WolfordiD· 2 shared Cristen J. WilleriD· 2 shared Issei KomuroiD· 2 shared Kaoru ItoiD· 2 shared Kent D. TayloriD· 2 shared Kristian HveemiD· 2 shared Satoshi KoyamaiD· 2 shared

Activity by Year

2021-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Ben Michael BrumptonORCID

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4 papers

Recent·Most cited

Sex-related signatures in the plasma proteome not attributable to XX and XY chromosomes and their impact on health and disease

Essi Viippola, Tuomo Hartonen, Meihui Zhu, Zhijian Yang, Ryuya Edahiro, Tomoko Nakanishi, Ao Lan, Masahiro Kanai, Nhi N.L. Nguyen, Tatiana Cajuso, Daniela Fusco, Chiara Caime, Kristina Zguro, Sebastian May-Wilson, M. Austin Argentieri, , Andrea Ganna

The paper introduces the Proteomic Sex Index (PSI), a continuous measure of plasma proteome alignment with chromosomal sex, showing its association with health and disease traits.

medRxiv · Oct 21, 2026 · PreprintGenetic & Genomic Medicine

Recurrent stroke prediction by applying a stroke polygenic risk score in the Japanese population

Naoki Kojima, Masaru Koido, Yunye He, Yuka Shimmori, Tsuyoshi Hachiya, BioBank Japan, Stéphanie Debette, Yoichiro Kamatani

This study develops a polygenic risk score (metaGRS) for predicting recurrent stroke in the Japanese population using data from the BioBank Japan cohort, finding it associates with increased recurrence risk, particularly in individuals without hypertension.

Stroke · Mar 26, 2025Peer-reviewedGenetic & Genomic Medicine

Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors

Florian Thibord, Derek M. Klarin, Jennifer A. Brody, Ming‐Huei Chen, Michael G. Levin, Daniel I. Chasman, Ellen L. Goode, Kristian Hveem, Maris Teder‐Laving, Ángel Martínez-Pérez, Dylan Aïssi, Delphine Daian-Bacq, Kaoru Ito, Pradeep Natarajan, Pamela L. Lutsey, , Nicholas L. Smith

This study identifies 135 genomic loci associated with venous thromboembolism risk through cross-ancestry GWAS and provides insights into biological pathways and potential therapeutic targets.

Circulation · Oct 17, 2022Peer-reviewedGenetic & Genomic Medicine

Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants.

Krishna G. Aragam, Tao Jiang, Anuj Goel, Stavroula Kanoni, Brooke N. Wolford, Elle M. Weeks, Minxian Wang, George Hindy, Wei Zhou, Christopher Grace, Carolina Roselli, Nicholas Marston, Frederick Kamanu, Ida L. Surakka, Loreto Muñoz Venegas, , Adam S. Butterworth

A coronary artery disease GWAS of 181,522 cases among 1,165,690 participants yields 241 associations (54 new); an eight-predictor consensus nominates 185 candidate causal genes, 94 with ≥3 predictors.

medRxiv · May 24, 2021 · PreprintGenetic & Genomic Medicine✦ In-depth digest