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Genome-wide methylation detection and episignature analysis using PacBio long-read sequencing

26 Jan 2026

Abstract excerpt

BACKGROUND: The detection of 5-methylcytosine (5mC) patterns in the human genome is relevant for the diagnosis of various genetic conditions. Genome-wide methylation episignatures provide a new approach for resolving variants of uncertain significance. Whole-genome DNA methylation detection is usually performed using short-read bisulfite sequencing procedures or methylation arrays. Pacific Biosciences (PacBio)...

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PMID: 41588467
DOI: 10.1186/s13073-025-01506-9

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