At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children

IMPORTANCE: Although the clinical utility of genome sequencing for critically ill children is well recognized, its utility for proactive pediatric screening is not well explored. OBJECTIVE: To evaluate molecular findings from screening ostensibly healthy children with genome sequencing compared with...

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Detalles Bibliográficos
Autores principales: Balciuniene, Jorune, Liu, Ruby, Bean, Lora, Guo, Fen, Nallamilli, Babi Ramesh Reddy, Guruju, Naga, Chen-Deutsch, Xiangwen, Yousaf, Rizwan, Fura, Kristina, Chin, Ephrem, Mathur, Abhinav, Ma, Zeqiang, Carmichael, Jonathan, da Silva, Cristina, Collins, Christin, Hegde, Madhuri
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Medical Association 2023
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10391308/
https://www.ncbi.nlm.nih.gov/pubmed/37523181
http://dx.doi.org/10.1001/jamanetworkopen.2023.26445

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