Comparison of literature mining tools for variant classification: Through the lens of 50 RYR1 variants.

PURPOSE: The American College of Medical Genetics and Genomics and the Association for Molecular Pathology have outlined a schema that allows for systematic classification of variant pathogenicity. Although gnomAD is generally accepted as a reliable source of population frequency data and ClinGen has provided guidance on the utility of specific bioinformatic predictors, there is no consensus source for identifying publications relevant to a variant. Multiple tools are available to aid in the identification of relevant variant literature, including manually curated databases and literature search engines. We set out to determine the utility of 4 literature mining tools used for ascertainment to inform the discussion of the use of these tools. METHODS: Four literature mining tools including the Human Gene Mutation Database, Mastermind, ClinVar, and LitVar 2.0 were used to identify relevant variant literature for 50 RYR1 variants. Sensitivity and precision were determined for each tool. RESULTS: Sensitivity among the 4 tools ranged from 0.332 to 0.687. Precision ranged from 0.389 to 0.906. No single tool retrieved all relevant publications. CONCLUSION: At the current time, the use of multiple tools is necessary to completely identify the literature relevant to curate a variant.

Vaccipack, A Mobile App to Promote Human Papillomavirus Vaccine Uptake Among Adolescents Aged 11 to 14 Years: Development and Usability Study.

BACKGROUND: More than 90% of human papillomavirus (HPV)-related cancers could be prevented by widespread uptake of the HPV vaccine, yet vaccine use in the United States falls short of public health goals. OBJECTIVE: The purpose of this study was to describe the development, acceptability, and intention to use the mobile app Vaccipack, which was designed to promote uptake and completion of the adolescent HPV vaccine series. METHODS: Development of the mobile health (mHealth) content was based on the integrated behavioral model (IBM). The technology acceptance model (TAM) was used to guide the app usability evaluation. App design utilized an iterative process involving providers and potential users who were parents and adolescents. App features include a vaccine-tracking function, a discussion forum, and stories with embedded messages to promote intention to vaccinate. Parents and adolescents completed surveys before and after introducing the app in a pediatric primary care setting with low HPV vaccination rates. RESULTS: Surveys were completed by 54 participants (20 adolescents aged 11 to 14 years and 34 parents). Notably, 75% (15/20) of adolescents and 88% (30/34) of parents intended to use the app in the next 2 weeks. Acceptability of the app was high among both groups: 88% (30/34) of parents and 75% (15/20) of adolescents indicated that Vaccipack was easy to use, and 82% (28/34) of parents and 85% (17/20) of adolescents perceived the app to be beneficial. Higher levels of app acceptability were found among parents with strong intentions to use the app (P=.09; 95% CI -2.15 to 0.15). CONCLUSIONS: mHealth technology, such as Vaccipack, may be an acceptable and nimble platform for providing information to parents and adolescents and advancing the uptake of important vaccines.