Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery

Abstract Background Cardiomyopathies are clinically important conditions, with a strong genetic component. National genomic initiatives such as 100,000 Genome Project (100KGP) provide opportunity to study these rare conditions at scale beyond conventional research studies. Methods We present the cli...

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Autori principali:	Katherine S. Josephs, Eleanor G. Seaby, Philippa May, Pantazis Theotokis, Jing Yu, Avgi Andreou, Hannah Sinclair, Deborah Morris-Rosendahl, Ellen R. A. Thomas, Sarah Ennis, Angharad M. Roberts, James S. Ware
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	BMC 2024-10-01
Serie:	Genome Medicine
Soggetti:	Cardiomyopathy Paediatric Genome sequencing 100,000 Genomes Project Genetic diagnosis
Accesso online:	https://doi.org/10.1186/s13073-024-01390-9
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