Nov 14, 2018

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

BioRxiv : the Preprint Server for Biology
Raul OssioCarla Robles-Espinoza

Abstract

Purpose: To 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). Methods: We 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 user's CPU to ensure the security of patient data. Results: VCF/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. Conclusion: VCF/Plotein is a novel web application that allows users to easily and interacti...Continue Reading

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Mentioned in this Paper

Genome
Genes
Research Personnel
Bio-Informatics
Whole Exome Sequencing
VCF Vaginal Contraceptive
File Device
Genomics
Sequencing
Filter - Medical Device

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