Article

Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients

2023-03-20

Abstract excerpt

<h4>Purpose</h4> Adoption of genome sequencing (GS) as a first-line test requires evaluation of its diagnostic yield. We evaluated the GS and targeted gene panel (TGP) testing in diverse pediatric patients (probands) with suspected genetic conditions. <h4>Methods</h4> Probands with neurologic, cardiac, or immunologic conditions were offered GS and TGP testing. Diagnostic yield was compared using a fully paired stu...

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Literature Corpus work: e7887a0c-7144-5e91-a7d1-4657a9ed1252
DOI: 10.1101/2023.03.18.23286992

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