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.

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).