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Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project

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Whole-genome sequencing (WGS) projects for rare disease diagnosis typically yield a diagnostic rate of 25–41%, depending on the methods for patient selection and the extent of prior genetic testing. The Scottish Genomes Partnership (SGP) is a collaborative programme using genome sequencing to diagnose rare disease patients with presumed monogenic aetiology in the Scottish NHS. Within…