Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
medRxiv : the preprint server for health sciences（2023）
摘要
GS may yield up to twice as many diagnoses in pediatric patients compared to TGP testing, but not yet across all population groups.
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关键词
gene panel testing,diverse pediatric patients,genome,pediatric patients,molecular diagnostic yield
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