Author

Marike Boezen

University Medical Center Groningen

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 3 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 4 Assay:GWAS summary statistics· 3 Research Focus:benchmarking· 2 Research Focus:GWAS / association mapping· 2 Research Focus:polygenic risk· 2 Approach:Bayesian inference· 1 Assay:bulk RNA-seq· 1

Frequent Co-Authors

Andrea GannaiD· 3 shared Anita PanditiD· 3 shared Anne RichmondiD· 3 shared Archie I CampbelliD· 3 shared Arjun BhattacharyaiD· 3 shared Ben Michael BrumptoniD· 3 shared Brett R. VanderwerffiD· 3 shared Brooke N. WolfordiD· 3 shared

Activity by Year

2019-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Andrea GannaORCID

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Author profile →

4 papers

Recent·Most cited

Global biobank analyses provide lessons for developing polygenic risk scores across diverse cohorts

Ying Wang, Shinichi Namba, Esteban A. Lopera-Maya, Sini Kerminen, Kristin Tsuo, Kristi Läll, Masahiro Kanai, Wei Zhou, Kuan-Han Wu, Marie-Julie Favé, Laxmi Bhatta, Philip Awadalla, Ben Michael Brumpton, Patrick Deelen, Kristian Hveem, , Clara Lajonchere

This study evaluates polygenic risk score methods across diverse biobanks and ancestries, finding that European reference panels often yield better performance, while PRS-CS outperforms P+T for high-heritability traits.

Cell Genomics · Jan 1, 2023Peer-reviewedGenetic & Genomic Medicine

Meta-analysis fine-mapping is often miscalibrated at single-variant resolution

Masahiro Kanai, Roy Elzur, Wei Zhou, Kuan-Han Wu, Humaira Rasheed, Kristin Tsuo, Jibril B Hirbo, Ying Wang, Arjun Bhattacharya, Huiling Zhao, Shinichi Namba, Ida L. Surakka, Brooke N. Wolford, Valeria Lo Faro, Esteban A. Lopera-Maya, , Tom R. Gaunt

This paper shows that meta-analysis fine-mapping is often miscalibrated due to cohort heterogeneity and introduces a QC method to identify suspicious loci.

Cell Genomics · Nov 4, 2022Peer-reviewedGenetic & Genomic Medicine

Global Biobank Meta-analysis Initiative: powering genetic discovery across human diseases

Wei Zhou, Masahiro Kanai, Kuan-Han Wu, Humaira Rasheed, Kristin Tsuo, Jibril B Hirbo, Ying Wang, Arjun Bhattacharya, Huiling Zhao, Shinichi Namba, Ida L. Surakka, Brooke N. Wolford, Valeria Lo Faro, Esteban A. Lopera-Maya, Kristi Läll, , Jennifer E. Huffman

Meta-analysis of harmonized GWAS from up to 18 biobanks (six ancestry groups) across 14 endpoints replicated 320 known loci and identified 188 apparently novel loci.

Cell Genomics · Oct 1, 2022Peer-reviewedGenetic & Genomic Medicine✦ In-depth digest

Analysis of genetically driven alternative splicing identifies FBXO38 as a novel COPD susceptibility gene

Aabida Saferali, Jeong Hyun Yun, Margaret M. Parker, Phuwanat Sakornsakolpat, Robert Chase, Andrew E. Lamb, Brian D. Hobbs, Marike Boezen, Xiangpeng Dai, Kim de Jong, Terri H. Beaty, Wenyi Wei, Xiaobo Zhou, Edwin K. Silverman, Michael H. Cho, , COPDGene Investigators

The paper identifies FBXO38 as a novel COPD susceptibility gene by analyzing genetically driven alternative splicing and finding a protective exon associated with COPD risk.

PLoS Genetics · Jul 3, 2019Peer-reviewedGenetics