Article

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

2020-09-05

Abstract excerpt

<h4>Purpose</h4> To evaluate the diagnostic yield and clinical utility of clinical genome sequencing (cWGS) as a first genetic test for patients with suspected monogenic disorders. <h4>Methods</h4> We 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 i...

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Literature Corpus work: 783671a8-0628-55a4-b273-edf68b27a115
DOI: 10.1101/2020.09.03.20181073

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