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Dyskeratosis Congenita

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Fragmentation Patterns of Human Telomeric Chromatin in Plasma cfDNA

The unique chromatin structure at telomeres protects the linear ends of chromosomes from DNA surveillance machineries. Here, we demonstrate that circulating cell-free DNA (cfDNA) from plasma can map chromatin structure at telomeres. We find that the telomeric 6-mer repeats (TTAGGG/CCCTAA) are the most abundant circulating 6-mers in cfDNA.

bioRxiv 11d ago