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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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Detalles Bibliográficos
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
Descripción
Sumario: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.