VCF Plotein
Methods
linear single view single scale single focus contiguous no abstraction linear parallel arrangement no interconnection point sparse typeTool
Access Format | web application |
Supported Files | vcf |
License | Creative Commons Attribution License |
Tool name | VCF Plotein |
Tool Link | https://vcfplotein.liigh.unam.mx/#/ |
Documentation | https://vcfplotein.liigh.unam.mx/#/ |
Paper
VCF/Plotein: visualization and prioritization of genomic variants from human exome sequencing projects
Raul Ossio, O Isaac Garcia-Salinas, Diego Said Anaya-Mancilla, Jair S Garcia-Sotelo, Luis A Aguilar, David J Adams, Carla Daniela Robles-Espinoza, VCF/Plotein: visualization and prioritization of genomic variants from human exome sequencing projects, Bioinformatics, Volume 35, Issue 22, 15 November 2019, Pages 4803–4805, https://doi.org/10.1093/bioinformatics/btz458
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 prioritize and visualize 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.