Purpose: Population-scale, exome-sequenced cohorts with linked electronic health records (EHR) permit genome-first exploration of phenotype. Phenotype and cancer risk are well-characterized in children with a pathogenic (HGNC ID:17098) variant. Here, the prevalence, penetrance and phenotype of pathogenic germline variants in adults was investigated in two population-scale cohorts.
View Article and Find Full Text PDFPurpose: To evaluate the impact of a best-practice advisory (BPA) and South Carolina legislation on naloxone prescribing patterns. The primary objective was to assess the change in naloxone prescription rates following BPA implementation. The secondary objective was to analyze the performance of the BPA.
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