Associations between weight gain and HTR2C and DRD2 variants in whites newly exposed to olanzapine may present opportunities for the individualization of medication selection and development based on differences in adverse events observed across genotype groups.
Copy-number variation (CNV), and deletions in particular, can play a crucial, causative role in rare disorders. The extent to which CNV contributes to common, complex disease etiology, however, is largely unknown. Current techniques to detect CNV are relatively expensive and time consuming, making it difficult to conduct the necessary large-scale genetic studies. SNP genotyping technologies, on the other hand, are relatively cheap, thereby facilitating large study designs. We have developed a computational tool capable of harnessing the information in SNP genotype data to detect deletions. Our approach not only detects deletions with high power but also returns accurate estimates of both the population frequency and the transmission frequency. This tool, therefore, lends itself to the discovery of deletions in large familial SNP genotype data sets and to simultaneous testing of the discovered deletion for association, with the use of both frequency-based and transmission/disequilibrium test-based designs. We demonstrate the effectiveness of our computer program (microdel), available for download at no cost, with both simulated and real data. Here, we report 693 deletions in the HapMap 16c collection, with each deletion assigned a population frequency.
Our simulation studies show that the proposed approach has clear utility in the context of pharmacogenetic studies, especially in candidate gene settings, and provides novel supplementary information that can be used to inform decision-making in the pharmaceutical industry.
From the onset of the pandemic in the United States, racial disparities in COVID-19 outcomes have been evident. In April 2020, several events prompted a concerned group of colleagues to form the Black Equity Coalition (BEC), a Black-led coalition in Allegheny County, Pennsylvania, which brings together professionals from multiple sectors who aim to ensure an equitable response to the COVID-19 pandemic. Several significant milestones have been achieved, and this article describes the development, functioning, and outcomes of the Coalition in the first 15 months of operation (April 2020–June 2021). COVID-19 was the reason for such an unprecedented effort, but this BEC infrastructure will be needed long after COVID-19 is controlled. In addition to short-term activities and reactive measures to prevent and mitigate COVID-19 in Black populations, the BEC is serving as a crucial link between government, health care stakeholders, and communities to produce long-term systemic change.
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