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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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書目詳細資料
發表在:J Genet Couns
Main Authors: Candadai, Sarah V. Clowes, Sikes, Megan C., Thies, Jenny M., Freed, Amanda S., Bennett, James T.
格式: Artigo
語言:Inglês
出版: 2019
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在線閱讀: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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