Article

The impact of clinical genome sequencing in a global population of patients with suspected rare genetic disease

2023-08-04

Abstract excerpt

<title>Abstract</title> <p>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 sym...

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Literature Corpus work: 4a9a2ac9-91ad-5382-a230-01fb69fb280a
DOI: 10.21203/rs.3.rs-3117254/v1

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