Publications by authors named "Pete White"

Background: Valvar pulmonary stenosis (vPS) accounts for 8% to 12% of congenital heart disease cases. Multiple genetic syndromes are associated with vPS, most commonly Noonan syndrome, but the cause is unknown in most cases. We analyzed genomic data from a large cohort with vPS to determine the prevalence of genetic diagnosis.

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The coronavirus (COVID-19) pandemic is having a devastating impact on global health. In the United States and abroad, there is concern for how the novel coronavirus will affect vulnerable populations, including people experiencing homelessness. Individuals who lack stable housing are more likely to have preexisting health conditions and limited access to basic preventative hygiene practices such as handwashing and sanitizing.

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Article Synopsis
  • - Wild-caught ballan wrasse from the British south-west coast are being moved to Scotland to help control sea lice on Atlantic salmon, but their health status was largely unknown prior to this study.
  • - A health assessment conducted on 75 ballan wrasse revealed various parasites, including copepods, nematodes, and opportunistic pathogens, with some fish showing signs of infection.
  • - Although no urgent health issues were found that would impact the wrasse's mass migration, the study recommends ongoing monitoring of the population to ensure their well-being.
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Purpose: To improve the accuracy of matching rare genetic diseases based on patient's phenotypes.

Methods: We introduce new methods to prioritize diagnosis of genetic diseases based on integrated semantic similarity (method 1) and ontological overlap (method 2) between the phenotypes expressed by a patient and phenotypes annotated to known diseases.

Results: We evaluated the performance of our methods by two sets of simulated data and one set of patient's data derived from electronic health records.

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