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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2014
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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. |
format | Online Article Text |
id | pubmed-4210545 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
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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