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Rapid clinical exome sequencing in a pediatric ICU: genetic counselor impacts and challenges

Exome sequencing (ES) has revolutionized molecular diagnosis in children with genetic disease over the past decade. However, exome sequencing in the inpatient setting has traditionally been discouraged, in part due to an increased risk of providers failing to retrieve and act upon results, as many p...

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Detalhes bibliográficos
Publicado no:J Genet Couns
Main Authors: Candadai, Sarah V. Clowes, Sikes, Megan C., Thies, Jenny M., Freed, Amanda S., Bennett, James T.
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6481675/
https://ncbi.nlm.nih.gov/pubmed/30964580
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jgc4.1116
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