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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書誌詳細

出版年:	Genome Medicine
主要な著者:	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
フォーマット:	論文
言語:	英語
出版事項:	BMC 2025-01-01
主題:	Long-read sequencing Developmental disorders Methylation Methylome Episignatures Nanopore sequencing
オンライン･アクセス:	https://doi.org/10.1186/s13073-024-01419-z