Author

Tobias Bäumer

University of LübeckORCID 0000-0003-1014-1782Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Research Focus:differential expression· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

André FrankeiD· 2 shared Norbert BrüggemanniD· 2 shared Sören FranzenburgiD· 2 shared Ai Huey TaniD· 1 shared Alberto Javier EspayiD· 1 shared Alexander Erich VolkiD· 1 shared Alexander Maximilian MünchauiD· 1 shared Alexandra S. Rudnik· 1 shared

Activity by Year

2025-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

André FrankeORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineGenome MedicinePeer-reviewedSep 17, 2025

Evaluating Genome Sequencing Strategies: Trio, Singleton, and Standard Testing in Rare Disease Diagnosis

Daniel Kaschta, Christina Post, Franziska Gaass…·Malte Spielmann

This study compares trio, singleton, and standard genome sequencing in rare disease diagnosis, finding trio sequencing has the highest diagnostic yield.

10 citationstop 3%

humanwhole-genome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicineAnnals of Clinical and Translational NeurologyPeer-reviewedJun 18, 2025

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing

Mirja Thomsen, Fabian Ott, Sebastian Loens…·Katja Lohmann

This study uses exome sequencing to identify genetic variants in dystonia patients, finding 137 likely pathogenic variants in 51 genes and expanding the known phenotypic spectrum of dystonia-related genes.

24 citationstop 1%

humanwhole-exome sequencing

𝕏 PostBluesky