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Expanded map of genomic imprinting reveals insight into human disease

2025-09-16 genetic and genomic medicine Title + abstract only
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Genomic imprinting involves parent-of-origin effect (POE) of regulatory element activity, often measured through methylation of CpG (5-mC) dinucleotides. While a dozen clinical syndromes are linked to defective imprinting, the extent this epigenetic phenomenon is linked to phenotypic variation and disease susceptibility remains undetermined. We show long-read HiFi genome sequencing for single-molecular profiling of 5-mC, together with pedigree-based phasing in early developmental tissue, provide...

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