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

Abstract 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....

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Principais autores: Mathilde Geysens, Benjamin Huremagic, Erika Souche, Jeroen Breckpot, Koenraad Devriendt, Hilde Peeters, Griet Van Buggenhout, Hilde Van Esch, Kris Van Den Bogaert, Joris Robert Vermeesch
Formato: Artigo
Idioma:Inglês
Publicado em: BMC 2025-01-01
coleção:Genome Medicine
Assuntos:
Long-read sequencing
Developmental disorders
Methylation
Methylome
Episignatures
Nanopore sequencing
Acesso em linha:https://doi.org/10.1186/s13073-024-01419-z
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