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Article

Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders.

Genome medicine - 10 Jan 2025

Geysens Mathilde, Huremagic Benjamin, Souche Erika, Breckpot Jeroen, Devriendt Koenraad, Peeters Hilde, Van Buggenhout Griet, Van Esch Hilde, Van Den Bogaert Kris, Vermeesch Joris Robert

Abstract excerpt

BACKGROUND: A subset of developmental disorders (DD) is characterized by disease-specific genome-wide methylation changes. These episignatures inform on the underlying pathogenic mechanisms and can be used to assess the pathogenicity of genomic variants as well as confirm clinical diagnoses. Currently, the detection of these episignature requires the use of indirect methylation profiling methodologies. We...

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Identifiers

PMID: 39789644
DOI: 10.1186/s13073-024-01419-z
PMCID: PMC11721592

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