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Diagnostic Yield of Genome Sequencing Versus Exome Sequencing in Pediatric Patients With Rare Phenotypes: A Systematic Review and Meta-Analysis.

American journal of medical genetics. Part A - 1 Oct 2025

Albuquerque Anna Luiza Braga, Dos Santos Giovanna Giovacchini, Sadok Sara Hadj, Antonello Breno Bopp, de Jesus Lorena Melo, de Carvalho Maria Eduarda Andrade, Mutarelli Antonio, Ribeiro Paulo Victor Zattar

Abstract excerpt

Rare diseases affect 6% of Western societies and are a leading cause of pediatric mortality. The popularization of Next Generation Sequencing technologies, especially exome sequencing (ES), revolutionized the diagnosis of children with rare disease. Still, most patients face extensive diagnostic odysseys and remain undiagnosed. Recently, genome sequencing (GS) emerged in hope that its broader coverage could...

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PMID: 40519120
DOI: 10.1002/ajmg.a.64146

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