VCF/Plotein: visualization and prioritization of genomic variants from human exome sequencing projects.

ABSTRACT:

Motivation

Identifying disease-causing variants from exome sequencing projects remains a challenging task that often requires bioinformatics expertise. Here we describe a user-friendly graphical application that allows medical professionals and bench biologists to prioritize and visualize genetic variants from human exome sequencing data.

Results

We have implemented VCF/Plotein, a graphical, fully interactive web application able to display exome sequencing data in VCF format. Gene and variant information is extracted from Ensembl. Cross-referencing with external databases and application-based gene and variant filtering have also been implemented. All data processing is done locally by the user's CPU to ensure the security of patient data.

Availability and implementation

Freely available on the web at https://vcfplotein.liigh.unam.mx. Website implemented in JavaScript using the Vue.js framework, with all major browsers supported. Source code freely available for download at https://github.com/raulossio/VCF-plotein.

Supplementary information

Supplementary data are available at Bioinformatics online.

SUBMITTER: Ossio R 

PROVIDER: S-EPMC6853650 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature