Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting
Lauren Thompson,
Austin Larson,
Lisa Salz
et al.
Abstract: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 hospitals between November 2017 and April 2020. Investigators completed a survey of demographic data, Human Phenotype Ontology (HPO) terms, test results and impacts of results on clinical care.ResultsA total of 188… Show more
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