Author

Stefanie Mueller

Boehringer Ingelheim (Germany)

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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Bioinformatics· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Research Focus:GWAS / association mapping· 1 Assay:imaging· 1 Assay:long-read sequencing· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Jatin AroraiD· 2 shared Zhihao DingiD· 2 shared Abdullah Mesut ErzurumluogluiD· 1 shared Aleksandr Kantorovich· 1 shared Anja FischeriD· 1 shared Boehringer Ingelheim – Global Computational Biology and Digital Sciences· 1 shared Boris BartholdyiD· 1 shared Boris NoyvertiD· 1 shared

Activity by Year

2023-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 38 mutual co-author links

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2 shared papersBioinformatics

Jatin AroraORCID

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2 papers

Recent·Most cited

Image-based Disease-wide Association Study via Self-supervised Learning links Abdominal MRI Features to 158 Diseases

Seyed Rasoul Mousavi, Jatin Arora, Richa Agarwal, Anja Fischer, Stefanie Mueller, Zhihao Ding, Johann de Jong, Ke Yuan

This paper uses self-supervised learning on abdominal MRI data to identify associations with 158 diseases, including those not directly related to abdominal anatomy, and shows improved performance over standard biomarkers for MASH.

bioRxiv · Jul 28, 2026 · PreprintBioinformatics

Imputation of structural variants using a multi-ancestry long-read sequencing panel enables identification of disease associations

Boris Noyvert, Abdullah Mesut Erzurumluoglu, Dmitriy Drichel, Steffen Omland, Till F. M. Andlauer, Stefanie Mueller, Lau Sennels, Christian Becker, Aleksandr Kantorovich, Boris Bartholdy, Ingrid Brænne, Julio Cesar Bolivar-Lopez, Costas Mistrellides, Gillian M. Belbin, Jeremiah H. Li, , Zhihao Ding

The paper imputes structural variants using a multi-ancestry long-read sequencing panel and identifies disease associations in large-scale datasets.

medRxiv · Dec 20, 2023 · PreprintGenetic & Genomic Medicine