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VariantDB: a flexible annotation and filtering portal for next generation sequencing data

Interpretation of the multitude of variants obtained from next generation sequencing (NGS) is labor intensive and complex. Web-based interfaces such as Galaxy streamline the generation of variant lists but lack flexibility in the downstream annotation and filtering that are necessary to identify cau...

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Autores principales: Vandeweyer, Geert, Van Laer, Lut, Loeys, Bart, Van den Bulcke, Tim, Kooy, R Frank
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4210545/
https://www.ncbi.nlm.nih.gov/pubmed/25352915
http://dx.doi.org/10.1186/s13073-014-0074-6
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author Vandeweyer, Geert
Van Laer, Lut
Loeys, Bart
Van den Bulcke, Tim
Kooy, R Frank
author_facet Vandeweyer, Geert
Van Laer, Lut
Loeys, Bart
Van den Bulcke, Tim
Kooy, R Frank
author_sort Vandeweyer, Geert
collection PubMed
description Interpretation of the multitude of variants obtained from next generation sequencing (NGS) is labor intensive and complex. Web-based interfaces such as Galaxy streamline the generation of variant lists but lack flexibility in the downstream annotation and filtering that are necessary to identify causative variants in medical genomics. To this end, we built VariantDB, a web-based interactive annotation and filtering platform that automatically annotates variants with allele frequencies, functional impact, pathogenicity predictions and pathway information. VariantDB allows filtering by all annotations, under dominant, recessive or de novo inheritance models and is freely available at http://www.biomina.be/app/variantdb/. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s13073-014-0074-6) contains supplementary material, which is available to authorized users.
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spelling pubmed-42105452014-10-29 VariantDB: a flexible annotation and filtering portal for next generation sequencing data Vandeweyer, Geert Van Laer, Lut Loeys, Bart Van den Bulcke, Tim Kooy, R Frank Genome Med Software Interpretation of the multitude of variants obtained from next generation sequencing (NGS) is labor intensive and complex. Web-based interfaces such as Galaxy streamline the generation of variant lists but lack flexibility in the downstream annotation and filtering that are necessary to identify causative variants in medical genomics. To this end, we built VariantDB, a web-based interactive annotation and filtering platform that automatically annotates variants with allele frequencies, functional impact, pathogenicity predictions and pathway information. VariantDB allows filtering by all annotations, under dominant, recessive or de novo inheritance models and is freely available at http://www.biomina.be/app/variantdb/. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s13073-014-0074-6) contains supplementary material, which is available to authorized users. BioMed Central 2014-10-02 /pmc/articles/PMC4210545/ /pubmed/25352915 http://dx.doi.org/10.1186/s13073-014-0074-6 Text en © Vandeweyer et al.; licensee BioMed Central Ltd. 2014 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 use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Software
Vandeweyer, Geert
Van Laer, Lut
Loeys, Bart
Van den Bulcke, Tim
Kooy, R Frank
VariantDB: a flexible annotation and filtering portal for next generation sequencing data
title VariantDB: a flexible annotation and filtering portal for next generation sequencing data
title_full VariantDB: a flexible annotation and filtering portal for next generation sequencing data
title_fullStr VariantDB: a flexible annotation and filtering portal for next generation sequencing data
title_full_unstemmed VariantDB: a flexible annotation and filtering portal for next generation sequencing data
title_short VariantDB: a flexible annotation and filtering portal for next generation sequencing data
title_sort variantdb: a flexible annotation and filtering portal for next generation sequencing data
topic Software
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4210545/
https://www.ncbi.nlm.nih.gov/pubmed/25352915
http://dx.doi.org/10.1186/s13073-014-0074-6
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