Author

Lucia Laugwitz

Universitätsklinikum TübingenORCID 0000-0003-2506-1961Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Approach:large language model· 1 Approach:machine learning (classical)· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Axel GschwindiD· 1 shared Daniela BezdaniD· 1 shared Dominic BoceckiD· 1 shared Ingeborg Krägeloh‐ManniD· 1 shared Katharina BeckeriD· 1 shared Kseniia SarievaiD· 1 shared Ludger J. SchölsiD· 1 shared Marc SturmiD· 1 shared

Activity by Year

2024-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Axel GschwindORCID

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2 papers

Recent·Most cited

Genetic & Genomic Medicinenpj Genomic MedicinePeer-reviewedAug 29, 2026

aiDIVA - Diagnostics of Rare Genetic Diseases Using Large Language Models

Dominic Boceck, Lucia Laugwitz, Marc Sturm…·Stephan Ossowski

aiDIVA uses AI and LLMs to prioritize causal genetic variants in rare diseases, achieving high accuracy in identifying top candidates.

DOI 10.1038/s41525-026-00611-x

humanwhole-exome sequencing

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NeuroscienceDisease Models & MechanismsPeer-reviewedJul 1, 2024

Human organoid model of PCH2a recapitulates brain region-specific pathology

Theresa Kagermeier, Stefan Hauser, Kseniia Sarieva…·Simone Mayer

This study develops human organoid models of PCH2a to investigate brain region-specific pathology, finding size reductions in cerebellar organoids and altered proliferation kinetics.

13 citationstop 3%

humanexperimental assay

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