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Implementing a co-designed, scalable process for returning findings in a national health system: early insights from the Generation Study

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October 24

Simulating Genomic Newborn Screening at Scale: Familial Hypercholesterolemia as a Model Disease
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October 24

Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort