PhenDisco: phenotype discovery system for the database of genotypes and phenotypes.

The database of genotypes and phenotypes (dbGaP) developed by the National Center for Biotechnology Information (NCBI) is a resource that contains information on various genome-wide association studies (GWAS) and is currently available via NCBI's dbGaP Entrez interface. The database is an important resource, providing GWAS data that can be used for new exploratory research or cross-study validation by authorized users. However, finding studies relevant to a particular phenotype of interest is challenging, as phenotype information is presented in a non-standardized way. To address this issue, we developed PhenDisco (phenotype discoverer), a new information retrieval system for dbGaP. PhenDisco consists of two main components: (1) text processing tools that standardize phenotype variables and study metadata, and (2) information retrieval tools that support queries from users and return ranked results. In a preliminary comparison involving 18 search scenarios, PhenDisco showed promising performance for both unranked and ranked search comparisons with dbGaP's search engine Entrez. The system can be accessed at http://pfindr.net

Adverse Childhood Experiences and Association With Pediatric Asthma Severity in the 2016–2017 National Survey of Children's Health

ObjectivesPrior studies have found that adverse childhood experiences (ACEs) are associated with asthma prevalence and onset, presumably related to stress and increased inflammation. We hypothesized that ACEs may be associated with asthma severity as well. We studied the 2016-2017 US National Survey of Children's Health dataset to explore the relationship between ACEs and pediatric asthma severity.MethodsWe analyzed children ages 0 to 17 years old who had current caregiver-reported asthma diagnosed by a healthcare provider. We reported descriptive characteristics using chi-square analysis of variance (ANOVA) and used multivariable regression analysis to assess the relationship of cumulative and individual ACEs with asthma severity. Survey sampling weights and SAS survey procedures were implemented to produce nationally representative results.ResultsOur analysis included 3691 children, representing a population of 5,465,926. Unadjusted analysis demonstrated that ACEs - particularly household economic hardship, parent/guardian served time in jail, witnessed household violence, or victim/witness of neighborhood violence - were each associated with higher odds of moderate/severe caregiver-reported asthma. After controlling for confounders possibly associated with both exposure (ACEs) and outcome (asthma severity), children who witnessed parent/adult violence had higher adjusted odds of caregiver-reported moderate/severe asthma. (1.67, confidence interval 1.05-2.64, P = .03) CONCLUSIONS: Intrafamilial witnessed household violence is significantly associated with caregiver-reported moderate/severe asthma