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Prospective evaluation of genome sequencing versus standard-of-care as a first molecular diagnostic test

2020-09-05 genetic and genomic medicine Title + abstract only
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PurposeTo evaluate the diagnostic yield and clinical utility of clinical genome sequencing (cWGS) as a first genetic test for patients with suspected monogenic disorders. MethodsWe conducted a prospective randomized study with pediatric and adult patients recruited from genetics clinics at Massachusetts General Hospital who were undergoing planned genetic testing. Participants were randomized into two groups: standard-of-care genetic testing (SOC) only or SOC and cWGS. Results204 participants ...

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