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

Genome medicine - 29 Oct 2024

Josephs Katherine S, Seaby Eleanor G, May Philippa, Theotokis Pantazis, Yu Jing, Andreou Avgi, Sinclair Hannah, Morris-Rosendahl Deborah, Thomas Ellen R A, Ennis Sarah, Roberts Angharad M, Ware James S

Abstract excerpt

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 clinical and molecular characteristics of the 100KGP cohort, comparing paediatric and adult probands with diverse...

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PMID: 39472908
DOI: 10.1186/s13073-024-01390-9
PMCID: PMC11520845

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