Article

Diagnostic Yield of Exome Sequencing in a Diverse Pediatric and Prenatal Population is not Associated with Genetic Ancestry

2023-05-24

Abstract excerpt

<h4>Purpose</h4> It has been hypothesized that diagnostic yield (DY) from Exome Sequencing (ES) may be lower among patients with non-European ancestries than those with European ancestry. We examined the association of DY with estimated continental genetic ancestry in a racially/ethnically diverse pediatric and prenatal clinical cohort. <h4>Methods</h4> Cases (N=845) with suspected genetic disorders underwent ES f...

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Literature Corpus work: 2c438a8f-3cfa-55e0-a97e-0ddd01ab1283
DOI: 10.1101/2023.05.19.23290066

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