Ontology-guided clustering enables proteomic analysis of rare pediatric disorders

Ontology-guided clustering enables proteomic analysis of rare pediatric disorders

Abstract The study of rare pediatric disorders is fundamentally limited by small patient numbers, making it challenging to draw meaningful biological conclusions. To address this, we developed a framework integrating clinical ontologies with proteomic profiling, enabling the systematic analysis of r...

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Main Authors: Ericka C M Itang, Vincent Albrecht, Alicia-Sophie Schebesta, Marvin Thielert, Anna-Lisa Lanz, Katharina Danhauser, Jessica Jin, Tobias Prell, Sophie Strobel, Christoph Klein, Matthias Mann, Susanne Pangratz-Fuehrer, Johannes Mueller-Reif
Format: Article
Language:English
Published: Springer Nature 2025-05-01
Series:EMBO Molecular Medicine
Subjects:
Pediatrics
Plasma
Proteomics
SNOMED CT
Urine
Online Access:https://doi.org/10.1038/s44321-025-00253-z
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https://doi.org/10.1038/s44321-025-00253-z

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