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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...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2019
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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. |
format | Online Article Text |
id | pubmed-6853650 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
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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