Author

Friederike Birgel

Christian-Albrechts-Universität zu Kiel

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· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Alexander Erich VolkiD· 1 shared Alexander Maximilian MünchauiD· 1 shared Almuth CaliebeiD· 1 shared Amelie T. van der VeniD· 1 shared André FrankeiD· 1 shared Andreas Dalski· 1 shared Andreas ReckeiD· 1 shared Anna Möllring· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alexander Erich VolkORCID

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1 paper

Recent·Most cited

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

Daniel Kaschta, Christina Post, Franziska Gaass, Milad Al-Tawil, Vincent Arriens, Saranya Balachandran, Tobias Bäumer, Valerie Berge, Friederike Birgel, Andreas Dalski, Maike Dittmar, André Franke, Sören Franzenburg, Janina Fuß, Bettina Gehring, , Malte Spielmann

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

Genome Medicine · Sep 17, 2025Peer-reviewedGenetic & Genomic Medicine