Article

Expanded map of genomic imprinting reveals insight into human disease

2025-09-16

Abstract excerpt

<h4>Summary</h4> 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-mol...

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Literature Corpus work: a5761640-cd8e-5b3d-9d01-c73e558155d9
DOI: 10.1101/2025.09.15.25335770

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