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

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

Open source

DOI
10.1002/ajmg.a.64146
Published
2025-06-16
Container
American Journal of Medical Genetics Part A
Publisher
Wiley
Open access
unknown

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BibTeX

@article{allodium:10.1002/ajmg.a.64146,
  title = {Diagnostic Yield of Genome Sequencing Versus Exome Sequencing in Pediatric Patients With Rare Phenotypes: A Systematic Review and Meta‐Analysis},
  author = {Anna Luiza Braga Albuquerque and Giovanna Giovacchini dos Santos and Sara Hadj Sadok and Breno Bopp Antonello and Lorena Melo de Jesus and Maria Eduarda Andrade de Carvalho and Antonio Mutarelli and Paulo Victor Zattar Ribeiro},
  year = {2025},
  journal = {American Journal of Medical Genetics Part A},
  doi = {10.1002/ajmg.a.64146},
  url = {https://doi.org/10.1002/ajmg.a.64146}
}

RIS

TY  - JOUR
TI  - Diagnostic Yield of Genome Sequencing Versus Exome Sequencing in Pediatric Patients With Rare Phenotypes: A Systematic Review and Meta‐Analysis
AU  - Anna Luiza Braga Albuquerque
AU  - Giovanna Giovacchini dos Santos
AU  - Sara Hadj Sadok
AU  - Breno Bopp Antonello
AU  - Lorena Melo de Jesus
AU  - Maria Eduarda Andrade de Carvalho
AU  - Antonio Mutarelli
AU  - Paulo Victor Zattar Ribeiro
PY  - 2025
JO  - American Journal of Medical Genetics Part A
DO  - 10.1002/ajmg.a.64146
UR  - https://doi.org/10.1002/ajmg.a.64146
ER  - 

APA

Albuquerque, A. L. B., Santos, G. G. D., Sadok, S. H., Antonello, B. B., Jesus, L. M. D., Carvalho, M. E. A. D., Mutarelli, A., & Ribeiro, P. V. Z. (2025). 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. https://doi.org/10.1002/ajmg.a.64146

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