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asms: finding allele-specific methylation in human genomes without phasing.

NAR genomics and bioinformatics - 1 Sept 2026

Raineri Emanuele, Esteve Marco Miguel Ángel, Casals Eloi, Esteve Codina Anna

Abstract excerpt

Allele-specific methylation (ASM) refers to the differential DNA methylation between two alleles at a specific locus. This phenomenon can be driven by genomic imprinting (where gene expression depends on the parent of origin) or by genetic variants (that may affect DNA-protein binding), both of which play crucial roles in gene regulation and contribute to normal biological variation and disease. ASM can be...

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PMID: 42395864
DOI: 10.1093/nargab/lqag072
PMCID: PMC13326645

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