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VIPER: a web application for rapid expert review of variant calls

SUMMARY: With the rapid development in next-generation sequencing, cost and time requirements for genomic sequencing are decreasing, enabling applications in many areas such as cancer research. Many tools have been developed to analyze genomic variation ranging from single nucleotide variants to who...

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Detalles Bibliográficos
Autores principales: Wöste, Marius, Dugas, Martin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5972565/
https://www.ncbi.nlm.nih.gov/pubmed/29346510
http://dx.doi.org/10.1093/bioinformatics/bty022
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author Wöste, Marius
Dugas, Martin
author_facet Wöste, Marius
Dugas, Martin
author_sort Wöste, Marius
collection PubMed
description SUMMARY: With the rapid development in next-generation sequencing, cost and time requirements for genomic sequencing are decreasing, enabling applications in many areas such as cancer research. Many tools have been developed to analyze genomic variation ranging from single nucleotide variants to whole chromosomal aberrations. As sequencing throughput increases, the number of variants called by such tools also grows. Often employed manual inspection of such calls is thus becoming a time-consuming procedure. We developed the Variant InsPector and Expert Rating tool (VIPER) to speed up this process by integrating the Integrative Genomics Viewer into a web application. Analysts can then quickly iterate through variants, apply filters and make decisions based on the generated images and variant metadata. VIPER was successfully employed in analyses with manual inspection of more than 10 000 calls. AVAILABILITY AND IMPLEMENTATION: VIPER is implemented in Java and Javascript and is freely available at https://github.com/MarWoes/viper. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
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spelling pubmed-59725652018-06-04 VIPER: a web application for rapid expert review of variant calls Wöste, Marius Dugas, Martin Bioinformatics Applications Notes SUMMARY: With the rapid development in next-generation sequencing, cost and time requirements for genomic sequencing are decreasing, enabling applications in many areas such as cancer research. Many tools have been developed to analyze genomic variation ranging from single nucleotide variants to whole chromosomal aberrations. As sequencing throughput increases, the number of variants called by such tools also grows. Often employed manual inspection of such calls is thus becoming a time-consuming procedure. We developed the Variant InsPector and Expert Rating tool (VIPER) to speed up this process by integrating the Integrative Genomics Viewer into a web application. Analysts can then quickly iterate through variants, apply filters and make decisions based on the generated images and variant metadata. VIPER was successfully employed in analyses with manual inspection of more than 10 000 calls. AVAILABILITY AND IMPLEMENTATION: VIPER is implemented in Java and Javascript and is freely available at https://github.com/MarWoes/viper. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online. Oxford University Press 2018-06-01 2018-01-15 /pmc/articles/PMC5972565/ /pubmed/29346510 http://dx.doi.org/10.1093/bioinformatics/bty022 Text en © The Author(s) 2018. Published by Oxford University Press. http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Applications Notes
Wöste, Marius
Dugas, Martin
VIPER: a web application for rapid expert review of variant calls
title VIPER: a web application for rapid expert review of variant calls
title_full VIPER: a web application for rapid expert review of variant calls
title_fullStr VIPER: a web application for rapid expert review of variant calls
title_full_unstemmed VIPER: a web application for rapid expert review of variant calls
title_short VIPER: a web application for rapid expert review of variant calls
title_sort viper: a web application for rapid expert review of variant calls
topic Applications Notes
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5972565/
https://www.ncbi.nlm.nih.gov/pubmed/29346510
http://dx.doi.org/10.1093/bioinformatics/bty022
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