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....

Descripción completa

Detalles Bibliográficos

Autores principales:	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
Lenguaje:	Inglês
Publicado:	BMC 2025-01-01
Colección:	Genome Medicine
Materias:	Long-read sequencing Developmental disorders Methylation Methylome Episignatures Nanopore sequencing
Acceso en línea:	https://doi.org/10.1186/s13073-024-01419-z
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!