VCF/Plotein: A web application to facilitate the clinical interpretation of genetic and genomic variants from exome sequencing projects

Abstract

PurposeTo create a user-friendly web application that allows researchers, medical professionals and patients to easily and securely view, filter and interact with human exome sequencing data in the Variant Call Format (VCF).\n\nMethodsWe have created VCF/Plotein, a web application written entirely in JavaScript using the Vue.js framework, available at http://vcfplotein.liigh.unam.mx. After a VCF is loaded, gene and variant information is extracted from Ensembl, and cross-referencing with external databases is performed via the Elasticsearch search engine. Support for application-based gene and variant filtering has also been implemented. Interactive graphs are created using the D3.js library. All data processing is done locally in the users CPU to ensure the security of patient data.\n\nResultsVCF/Plotein allows users to interactively view and filter VCF files without needing any bioinformatics knowledge. A number of features make it especially suited for the medical community, such as its speed, security, the ability to filter by disease or gene function, and the ease with which information may be shared with collaborators/co-workers.\n\nConclusionVCF/Plotein is a novel web application that allows users to easily and interactively filter and display exome sequencing information, and that is especially suited for bench researchers, medical professionals and patients.