Background: Primary care providers are tasked with the increasingly difficult job of addressing childhood obesity during clinic visits. Electronic medical record (EMR)-enabled decision-support tools may aid providers in this task; however, information is needed regarding whether providers perceive such tools to be useful for addressing nutrition and physical activity lifestyle behaviors.
Objectives: This study aimed to evaluate the usefulness and usability of FitTastic, an EMR-enabled tool to support prevention and management of childhood obesity in primary care.
Small copy number variations (CNVs) have typically not been analyzed or reported in clinical settings and hence have remained underrepresented in databases and the literature. Here, we focused our investigations on these small CNVs using chromosome microarray analysis (CMA) data previously obtained from patients with atypical characteristics or disorders of sex development (DSD). Using our customized CMA track targeting 334 genes involved in the development of urogenital and reproductive structures and a less stringent analysis filter, we uncovered small genes with recurrent and overlapping CNVs as small as 1 kb, and small regions of homozygosity (ROHs), imprinting and position effects.
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