Author

Sylvia Thun

Berlin Institute of Health at Charité - Universitätsmedizin BerlinORCID 0000-0002-3346-6806Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 4

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 3 Research Focus:database / resource· 3 Research Focus:differential expression· 2 Research Focus:gene regulatory network inference· 2 Organism:human· 2 Approach:statistical model· 2 Approach:benchmark study· 1 Assay:electronic health records· 1

Frequent Co-Authors

Chris MungalliD· 4 shared Daniel DanisiD· 4 shared Melissa Anne HaendeliD· 4 shared Peter N. RobinsoniD· 4 shared Adam S.L. GraefeiD· 3 shared Damian P. SmedleyiD· 3 shared Filip RehburgiD· 3 shared Julius O.B. JacobseniD· 3 shared

Activity by Year

2022-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

Chris MungallORCID

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4 papers

Recent·Most cited

GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders

Lauren Rekerle, Daniel Danis, Filip Rehburg, Adam S.L. Graefe, Viktor Bílý, Andrés Caballero-Oteyza, Pilar Cacheiro, Leonardo Chimirri, Jessica X. Chong, Evan Connelly, Bert B A De Vries, Alexander J.M. Dingemans, Michael Duyzend, Tomáš Freiberger, Petra Gehle, , Peter N. Robinson

The paper introduces GPSEA, a tool using GA4GH Phenopackets to analyze genotype-phenotype correlations in Mendelian disorders, identifying 225 significant associations across 85 cohorts.

The American Journal of Human Genetics · Dec 23, 2025Peer-reviewedGenetic & Genomic Medicine

Linking international registries to FHIR and Phenopackets with RareLink: a scalable REDCap-based framework for rare disease data interoperability

Adam S L Graefe, Filip Rehburg, Samer Alkarkoukly, Daniel Daniš, Ana Grönke, Miriam R. Hübner, Alexander Bartschke, Thomas Debertshäuser, Sophie Anne Inès Klopfenstein, Julian Saß, Julia Fleck, Mirko Rehberg, Jana Zschüntzsch, Elisabeth F. Nyoungui, Tatiana Kalashnikova, , Oya Beyan

RareLink enables interoperability between REDCap and global health standards by exporting data to Phenopackets and FHIR, improving rare disease research scalability and data reuse.

medRxiv · May 9, 2025 · PreprintGenetic & Genomic Medicine

A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery

Daniel Daniš, Michael J Bamshad, Yasemin Bridges, Andrés Caballero-Oteyza, Pilar Cacheiro, Leigh Carmody, Leonardo Chimirri, Jessica X. Chong, Ben D Coleman, Raymond W. M. Dalgleish, Peter Freeman, Adam S L Graefe, Tudor Groza, Peter Hansen, Julius O.B. Jacobsen, , Peter N. Robinson

The paper presents a large-scale corpus of standardized phenopackets for genomic diagnostics and discovery, curated from literature and useful for software testing and genotype-phenotype analysis.

Human Genetics and Genomics Advances · Oct 10, 2024Peer-reviewedGenetic & Genomic Medicine

The GA4GH Phenopacket schema: A computable representation of clinical data for precision medicine

Julius O.B. Jacobsen, Michael Baudis, Gareth S Baynam, Jacques Samuel Beckmann, Sergi Beltrán, Orion J. Buske, Tiffany J. Callahan, Christopher G. Chute, Mélanie Courtot, Daniel Daniš, Olivier Elemento, Andrea Essenwanger, Robert R. Freimuth, Michael A. Gargano, Tudor Groza, , Peter N. Robinson

The paper introduces the GA4GH Phenopacket schema to standardize the exchange of phenotypic data for precision medicine applications.

Nature Biotechnology · Jun 1, 2022Peer-reviewedGenetic & Genomic Medicine