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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Номзүйн дэлгэрэнгүй

Үндсэн зохиолчид:	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
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	BMC 2025-01-01
Цуврал:	Genome Medicine
Нөхцлүүд:	Long-read sequencing Developmental disorders Methylation Methylome Episignatures Nanopore sequencing
Онлайн хандалт:	https://doi.org/10.1186/s13073-024-01419-z
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!