The impact of clinical genome sequencing in a global population of patients with suspected rare genetic disease
Ryan Taft,
Erin Thorpe,
Taylor Williams
et al.
Abstract:Clinical genome sequencing (cGS) holds promise as a unified diagnostic testing platform in patients with a suspected rare genetic disease (RGD), however its performance and impact on clinical management in a diverse global population has yet to be investigated. The iHope program established a network of 24 clinical sites in eight countries to provide cGS to individuals with signs or symptoms of a RGD and constrained access to molecular testing. A retrospective, observational analysis of 1,004 individuals who r… Show more
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