Molecular Diagnostic Yield of Exome Sequencing and Genome Sequencing in Critical Ill Neonates and Infants: A Systematic Review and Meta-Analysis - PubMed
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- #Diagnostic Yield
- #Exome Sequencing
- #Genome Sequencing
- The overall diagnostic yield for both exome sequencing (ES) and genome sequencing (GS) in critically ill neonates and infants was 39.4%, based on a meta-analysis of 26 ES cohorts and 22 GS cohorts.
- Subgroup analyses showed trends toward higher diagnostic yields with trio-based sequencing versus non-trio approaches and with rapid GS versus rapid ES, but these differences were not statistically significant.
- Meta-regression indicated no significant change in diagnostic yield over time, supporting the consistent utility of these sequencing methods for diagnosing genetic disorders in this patient population.