Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital's perspective.
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SUBMITTER: Wells CF
PROVIDER: S-EPMC9436918 | biostudies-literature | 2022 Sep
REPOSITORIES: biostudies-literature
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Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital's perspective.
Wells Constance F CF Boursier Guilaine G Yauy Kevin K Ruiz-Pallares Nathalie N Mechin Déborah D Ruault Valentin V Tharreau Mylène M Blanchet Patricia P Pinson Lucile L Coubes Christine C Fila Marc M Baleine Julien J Pidoux Odile O Badr Maliha M Milesi Christophe C Cambonie Gilles G Mesnage Renaud R Dereure Maëlle M Ardouin Olivier O Guignard Thomas T Geneviève David D Barat-Houari Mouna M Willems Marjolaine M
European journal of human genetics : EJHG 20220622 9
This monocentric study included fifteen children under a year old in intensive care with suspected monogenic conditions for rapid trio exome sequencing (rES) between April 2019 and April 2021. The primary outcome was the time from blood sampling to rapid exome sequencing report to parents. All results were available within 16 days and were reported to parents in or under 16 days in 13 of the 15 individuals (86%). Six individuals (40%) received a diagnosis with rES, two had a genetic condition no ...[more]
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