VCF/Plotein: Visualisation and prioritisation of genomic variants from human exome sequencing projects.

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ID: 3516
2019
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Abstract
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 prioritise and visualise genetic variants from human exome sequencing data.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.Freely available on the web at http://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 data are available at Bioinformatics online.
Reference Key
ossio2019vcfploteinbioinformatics Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Ossio, Raul;Garcia-Salinas, O Isaac;Anaya-Mancilla, Diego Said;Garcia-Sotelo, Jair S;Aguilar, Luis A;Adams, David J;Robles-Espinoza, Carla Daniela;
Journal Bioinformatics
Year 2019
DOI
btz458
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