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Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting

ObjectiveMulti-center implementation of rapid whole genome sequencing with assessment of the clinical utility of rapid whole genome sequencing (rWGS), including positive, negative and uncertain results, in admitted infants with a suspected genetic disease.Study designrWGS tests were ordered at eight...

Whakaahuatanga katoa

I tiakina i:
Ngā kaituhi matua: Lauren Thompson, Austin Larson, Lisa Salz, Regan Veith, John-Paul Tsai, Anuj Jayakar, Rachel Chapman, Apeksha Gupta, Stephen F. Kingsmore, David Dimmock, Alan Bedrick, Maureen Kelly Galindo, Kari Casas, Mohamed Mohamed, Lisa Straight, M. Akram Khan, Daria Salyakina
Hōputu: Artigo
Reo:Inglês
I whakaputaina: Frontiers Media S.A. 2024-02-01
Rangatū:Frontiers in Pediatrics
Ngā marau:
genomic testing
diagnostic testing
rare disease
neonatal
pediatric
Urunga tuihono:https://www.frontiersin.org/articles/10.3389/fped.2024.1349519/full
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