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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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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
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author Ossio, Raul
Garcia-Salinas, O Isaac
Anaya-Mancilla, Diego Said
Garcia-Sotelo, Jair S
Aguilar, Luis A
Adams, David J
Robles-Espinoza, Carla Daniela
author_facet Ossio, Raul
Garcia-Salinas, O Isaac
Anaya-Mancilla, Diego Said
Garcia-Sotelo, Jair S
Aguilar, Luis A
Adams, David J
Robles-Espinoza, Carla Daniela
author_sort Ossio, Raul
collection PubMed
description 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.
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spelling pubmed-68536502019-11-19 VCF/Plotein: visualization and prioritization of genomic variants from human exome sequencing projects Ossio, Raul Garcia-Salinas, O Isaac Anaya-Mancilla, Diego Said Garcia-Sotelo, Jair S Aguilar, Luis A Adams, David J Robles-Espinoza, Carla Daniela Bioinformatics Applications Notes 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. Oxford University Press 2019-11-15 2019-06-04 /pmc/articles/PMC6853650/ /pubmed/31161195 http://dx.doi.org/10.1093/bioinformatics/btz458 Text en © The Author(s) 2019. Published by Oxford University Press. http://creativecommons.org/licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Applications Notes
Ossio, Raul
Garcia-Salinas, O Isaac
Anaya-Mancilla, Diego Said
Garcia-Sotelo, Jair S
Aguilar, Luis A
Adams, David J
Robles-Espinoza, Carla Daniela
VCF/Plotein: visualization and prioritization of genomic variants from human exome sequencing projects
title VCF/Plotein: visualization and prioritization of genomic variants from human exome sequencing projects
title_full VCF/Plotein: visualization and prioritization of genomic variants from human exome sequencing projects
title_fullStr VCF/Plotein: visualization and prioritization of genomic variants from human exome sequencing projects
title_full_unstemmed VCF/Plotein: visualization and prioritization of genomic variants from human exome sequencing projects
title_short VCF/Plotein: visualization and prioritization of genomic variants from human exome sequencing projects
title_sort vcf/plotein: visualization and prioritization of genomic variants from human exome sequencing projects
topic Applications Notes
url 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
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