Ultra-low-input cell-free DNA sequencing for tumor detection and characterization in a real-world pediatric brain tumor cohort

Ultra-low-input cell-free DNA sequencing for tumor detection and characterization in a real-world pediatric brain tumor cohort

Abstract Molecular profiling of pediatric central nervous system (CNS) tumors has important clinical utility for guiding diagnostic and therapeutic strategies. Cell-free DNA (cfDNA) from liquid biopsies has been used for minimally invasive tumor profiling and longitudinal disease assessment in adult...

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Main Authors: Tom T. Fischer, Kendra K. Maaß, Pitithat Puranachot, Markus Mieskolainen, Martin Sill, Paulina S. Schad, Stefanie Volz, Fabian Rosing, Tatjana Wedig, Nathalie Schwarz, Agnes M. E. Finster, Florian Iser, Jochen Meyer, Felix Sahm, Olli Lohi, Ahmed El Damaty, Benedikt Brors, Hannu Haapasalo, Stefan M. Pfister, Joonas Haapasalo, Kristian W. Pajtler, Kristiina Nordfors
Format: Article
Language:English
Published: BMC 2025-06-01
Series:Acta Neuropathologica Communications
Subjects:
Cerebrospinal fluid liquid biopsies
Cell-free DNA
Low-input samples
Circulating-tumor DNA
Copy number variation profiling
Low-coverage whole genome sequencing
Online Access:https://doi.org/10.1186/s40478-025-02024-w
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