Circ Genom Precis Med
August 2022
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.
View Article and Find Full Text PDFThe 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.
View Article and Find Full Text PDFPurpose: 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.