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

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 v...

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Detalles Bibliográficos
Autores principales: Ossio, Raul, Garcia-Salinas, O Isaac, Anaya-Mancilla, Diego Said, Garcia-Sotelo, Jair S, Aguilar, Luis A, Adams, David J, Robles-Espinoza, Carla Daniela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6853650/
https://www.ncbi.nlm.nih.gov/pubmed/31161195
http://dx.doi.org/10.1093/bioinformatics/btz458
Descripción
Sumario: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.