Long-read sequencing reveals extensive FMR1 somatic mosaicism in Fragile-X associated tremor/ataxia syndrome in human brain

Authors: Anna Dischler, Akshay Avvaru, Susana Lopez-Ignacio, Cristina Lau, Martin W. Breuss, Verónica Martínez Cerdeño, Harriet Dashnow, Caroline M. Dias

This work provides new insight into the extensive molecular variation underlying FXTAS in human brain and establishes a framework for studying repeat expansion disorders more broadly, highlighting the potential of long-read sequencing to advance our fundamental understanding of somatic mosaicism of these intractable regions of our genome.

Journal: bioRxiv
DOI: 10.1101/2025.10.07.678589
Year: 2025

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