Meta-analysis of the diagnostic and clinical utility of exome and genome sequencing in pediatric and adult patients with rare diseases across diverse populations

This meta-analysis aims to compare the diagnostic and clinical utility of exome sequencing (ES) vs genome sequencing (GS) in pediatric and adult patients with rare diseases across diverse populations. A meta-analysis was conducted to identify studies from 2011 to 2021. One hundred sixty-one studies...

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Veröffentlicht in:	Genetics in medicine 2023-09, Vol.25 (9), p.100896-100896, Article 100896
Hauptverfasser:	Chung, Claudia C.Y., Hue, Shirley P.Y., Ng, Nicole Y.T., Doong, Phoenix H.L., Chu, Annie T.W., Chung, Brian H.Y.
Format:	Artikel
Sprache:	eng
Schlagworte:	Exome sequencing Genome sequencing Genomic diversity Meta-analysis Rare disease
Online-Zugang:	Volltext
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