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Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population

26 May 2023

Abstract excerpt

The diagnostic yield of exome sequencing (ES) has primarily been evaluated in individuals of European ancestry, with less focus on underrepresented minority (URM) and underserved (US) patients. We evaluated the diagnostic yield of ES in a cohort of predominantly US and URM pediatric and prenatal patients suspected to have a genetic disorder. Eligible pediatric patients had multiple congenital anomalies and/or...

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Share to Genomic variations and chromosomal abnormalities
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Share to Prenatal Screening and Diagnostics

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 37236975
DOI: 10.1038/s41525-023-00353-0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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